PhenCode: connecting ENCODE data with mutations and phenotype (Q31103056)

28 June 2017

PhenCode: connecting ENCODE data with mutations and phenotype (English)

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28 June 2017

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28 June 2017

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Heather Trumbower

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Laura Elnitski

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object named as

Laura Elnitski

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Charles R. Scriver

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object named as

Charles Scriver

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28 June 2017

Mauno Vihinen

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Webb Miller

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Webb Miller

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28 June 2017

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George P Patrinos

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28 June 2017

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Belinda Giardine

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Doug Higgs

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28 June 2017

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Jim Kent

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Cathy Riemer

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28 June 2017

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David Chui

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28 June 2017

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Robert Kuhn

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28 June 2017

Tim Hefferon

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28 June 2017

Daryl Thomas

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28 June 2017

Fan Hsu

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28 June 2017

Julian Zielenski

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Yunhua Sang

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Garry Cutting

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Andrew Kern

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Jim Hughes

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Manyphong Phommarinh

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Santosh K Patnaik

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Olga Blumenfeld

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Bruce Gottlieb

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Jouni Väliaho

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28 June 2017

language of work or name

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1 June 2007

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28 June 2017

554-562

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28 June 2017

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The SWISS-PROT protein sequence database and its supplement TrEMBL in 2000.

28 June 2017

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

The HUGO Mutation Database Initiative

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Nomenclature for the description of human sequence variations.

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

The ENCODE (ENCyclopedia Of DNA Elements) Project

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

A deletion of the human beta-globin locus activation region causes a major alteration in chromatin structure and replication across the entire beta-globin locus.

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Position-independent, high-level expression of the human beta-globin gene in transgenic mice

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20484

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7 January 2021

A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

The UCSC Table Browser data retrieval tool

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

BLAT—The BLAST-Like Alignment Tool

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

The human genome browser at UCSC

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Evaluation of regulatory potential and conservation scores for detecting cis-regulatory modules in aligned mammalian genome sequences

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

The APOA1/C3/A4/A5 gene cluster, lipid metabolism and cardiovascular disease risk.

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Human sequence variation and mutation databases

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Locus control regions

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

ORegAnno: an open access database and curation system for literature-derived promoters, transcription factor binding sites and regulatory variation

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11.

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

DNA, diseases and databases: disastrously deficient

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

PAHdb 2003: what a locus-specific knowledgebase can do.

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

An erythroid-specific, developmental-stage-independent enhancer far upstream of the human "beta-like globin" genes

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Ser19-->Trp polymorphism within the apolipoprotein AV gene in hypertriglyceridaemic people

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

The EBI SRS server-new features

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https://api.crossref.org/works/10.1002%2FHUMU.20484

7 January 2021

Identifiers

DOI

10.1002/HUMU.20484

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28 June 2017

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