Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations (Q35618591)

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7 March 2020

title

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations (English)

1 reference

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7 March 2020

3

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7 March 2020

Anna E Koopmans

10

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7 March 2020

Wilfred F J van IJcken

17

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15

Dicky Halley

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2

Rutger W W Brouwer

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7 March 2020

1

Mark Nellist

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16

Annelies de Klein

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7 March 2020

author name string

Monique van Veghel-Plandsoen

4

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7 March 2020

Caroline Withagen-Hermans

5

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7 March 2020

Lida Prins-Bakker

6

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7 March 2020

Marianne Hoogeveen-Westerveld

7

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7 March 2020

Alan Mrsic

8

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7 March 2020

Mike M P van den Berg

9

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Marie-Claire de Wit

11

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Floor E Jansen

12

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7 March 2020

Anneke J A Maat-Kievit

13

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7 March 2020

Ans van den Ouweland

14

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7 March 2020

publication date

25 February 2015

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7 March 2020

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7 March 2020

volume

16

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7 March 2020

page(s)

10

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Creative Commons Attribution 4.0 International

7 March 2020

copyright license

start time

25 February 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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exact match

https://scigraph.springernature.com/pub.10.1186/s12881-015-0155-4

0 references

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12 July 2018

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Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

12 July 2018

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12 July 2018

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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

12 July 2018

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Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

12 July 2018

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Sequencing technologies - the next generation

12 July 2018

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12 July 2018

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12 July 2018

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Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified

12 July 2018

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Identification of a core promoter and a novel isoform of the human TSC1 gene transcript and structural comparison with mouse homolog.

12 July 2018

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Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions

12 July 2018

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12 July 2018

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Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

12 July 2018

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12 July 2018

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Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues

25 September 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/25927202

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25927202

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12881-015-0155-4

1 reference

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Dimensions Publication ID

7 March 2020

0 references

1 reference

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7 March 2020

1 reference

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