Publications:

Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome.

Medicine

Jiang, TieJia T; Shen, Yaping Y; Chen, Huai H; Yuan, Zhefeng Z; Mao, Shanshan S; Gao, Feng F

Publication Date: 2018-12

Variant appearance in text: SCN1A: 2985T>G

PubMed Link: 30558019

Variant Present in the following documents:

• Main text
• medi-97-e13565.pdf

View BVdb publication page

High-frequency actionable pathogenic exome variants in an average-risk cohort.

Cold Spring Harbor Molecular Case Studies

Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP

Publication Date: 2018-12

Variant appearance in text: SCN1A: 2985T>G

PubMed Link: 30487145

Variant Present in the following documents:

• supp_mcs.a003178_Supplemental_File_3.xlsx, sheet 1

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SCN1A: 2985T>G; Phe995Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page