SMN1 c.829T>C ;(p.Y277H)

Variant ID: 5-70241998-T-C

NM_000344.3(SMN1):c.829T>C;(p.Y277H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.

Genes
Niba, Emma Tabe Eko ETE; Nishio, Hisahide H; Wijaya, Yogik Onky Silvana YOS; Ar Rochmah, Mawaddah M; Takarada, Toru T; Takeuchi, Atsuko A; Kimizu, Tomokazu T; Okamoto, Kentaro K; Saito, Toshio T; Awano, Hiroyuki H; Takeshima, Yasuhiro Y; Shinohara, Masakazu M
Publication Date: 2022-01-24

Variant appearance in text: SMN1: Y277H
PubMed Link: 35205250
Variant Present in the following documents:
  • Main text
  • genes-13-00205.pdf
View BVdb publication page