(Q48464435)

11 February 2018

title

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome (English)

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11 February 2018

author

Yasushi Iimura

4

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Yoshinori Tsurusaki

6

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Hirotomo Saitsu

8

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Mitsuhiro Kato

object named as

Mitsuhiro Kato

5

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author name string

Mitsuko Nakashima

1

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11 February 2018

Masakazu Miyajima

2

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11 February 2018

Hidenori Sugano

3

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11 February 2018

Noriko Miyake

7

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Hajime Arai

9

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Naomichi Matsumoto

10

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publication date

6 November 2014

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11 February 2018

Journal of Human Genetics

published in

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11 February 2018

volume

59

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issue

12

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page(s)

691-693

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11 February 2018

https://scigraph.springernature.com/pub.10.1038/jhg.2014.95

exact match

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cites work

Sturge-Weber syndrome: from the past to the present

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.95

Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2014.95

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

21 January 2018

1 reference

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The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.95

Integrative genomics viewer

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https://api.crossref.org/works/10.1038%2FJHG.2014.95

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

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1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.95

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.95

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.95

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.95

An integrated map of genetic variation from 1,092 human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.95

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.95

G-protein signaling: back to the future

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.95

Molecular cloning of human G alpha q cDNA and chromosomal localization of the G alpha q gene (GNAQ) and a processed pseudogene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.95

Functions and regulatory mechanisms of Gq-signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.95

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.95

Mutations in GNA11 in uveal melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.95

Pasteurella multocida toxin activation of heterotrimeric G proteins by deamidation

21 January 2018

1 reference

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The emerging mutational landscape of G proteins and G-protein-coupled receptors in cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.95

Evidence of somatic mosaicism in Sturge-Weber syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25374402

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Activation of phospholipase C by alpha 1-adrenergic receptors is mediated by the alpha subunits of Gq family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25374402

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/JHG.2014.95

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11 February 2018

1 reference

11 February 2018