Publications:

Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity.

Frontiers In Neurology

Niu, Yue Y; Gong, Pan P; Jiao, Xianru X; Xu, Zhao Z; Zhang, Yuehua Y; Yang, Zhixian Z

Publication Date: 2022

Variant appearance in text: SCN1A: 2831T>C; Val944Ala

PubMed Link: 36034301

Variant Present in the following documents:

• Main text
• fneur-13-907228.pdf

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: Nav1.1: V944A

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SMEI: V944A; rs121917969

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN1A: V944A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page