PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes (Q24814463)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15980522%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

title

PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15980522%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15980522%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Juan M. Vaquerizas

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15980522%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Xavier De la Cruz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15980522%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

5

Modesto Orozco

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15980522%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

author name string

Lucía Conde

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15980522%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Carles Ferrer-Costa

3

1 reference

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13 January 2020

publication date

1 July 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15980522%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

language of work or name

English

0 references

published in

Nucleic Acids Research

1 reference

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13 January 2020

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15980522%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

issue

Web Server issue

1 reference

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13 January 2020

page(s)

W501-5

1 reference

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The Ensembl core software libraries

13 January 2020

cites work

1 reference

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7 April 2017

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Human-mouse alignments with BLASTZ

7 April 2017

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Predicting deleterious amino acid substitutions

7 April 2017

1 reference

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7 April 2017

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Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease

7 April 2017

1 reference

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A vision for the future of genomics research

7 April 2017

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Searching for genetic determinants in the new millennium

7 April 2017

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Haploview: analysis and visualization of LD and haplotype maps

7 April 2017

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7 April 2017

1 reference

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The structure of haplotype blocks in the human genome

7 April 2017

1 reference

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Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

7 April 2017

1 reference

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A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

Listening to silence and understanding nonsense: exonic mutations that affect splicing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

Prediction of deleterious human alleles

7 April 2017

1 reference

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TRANSFAC: an integrated system for gene expression regulation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

Triplex-forming oligonucleotide target sequences in the human genome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

Distribution of recombination crossovers and the origin of haplotype blocks: the interplay of population history, recombination, and mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

Beyond Mendel: an evolving view of human genetic disease transmission

28 September 2017

1 reference

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Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

Functional analysis of human promoter polymorphisms

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

Allelic Variation in Human Gene Expression

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

Understanding human disease mutations through the use of interspecific genetic variation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1165690

Sequence-based prediction of pathological mutations

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15980522

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Wanted: regulatory SNPs

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15980522

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/NAR/GKI476

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15980522%20AND%20SRC:MED&resulttype=core&format=json

journals/nar/CondeVFCOD05

13 January 2020

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15980522%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

PubMed publication ID

15980522

1 reference