SCN1A c.3693T>C ;(p.S1231=)

Variant ID: 2-166870266-A-G

NM_001165963.1(SCN1A):c.3693T>C;(p.S1231=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current.

Journal Of Neurophysiology
Schutte, Ryan J RJ; Schutte, Soleil S SS; Algara, Jacqueline J; Barragan, Eden V EV; Gilligan, Jeff J; Staber, Cynthia C; Savva, Yiannis A YA; Smith, Martin A MA; Reenan, Robert R; O'Dowd, Diane K DK
Publication Date: 2014-08-15

Variant appearance in text: SCN1A: S1231S
PubMed Link: 24805083
Variant Present in the following documents:
  • Main text
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