SMN1 c.271C>T ;(p.Q91*)

Variant ID: 5-70237333-C-T

NM_000344.3(SMN1):c.271C>T;(p.Q91*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


High-throughput screening reveals novel mutations in spinal muscular atrophy patients.

Italian Journal Of Pediatrics
Zhang, Ruiping R; Gu, Chunyu C; Pu, Linjie L; Meng, Yingtao Y; Shu, Jianbo J; Cai, Chunquan C
Publication Date: 2020-11-04

Variant appearance in text: SMN1: Gln91X
PubMed Link: 33148303
Variant Present in the following documents:
  • Main text
  • 13052_2020_Article_925.pdf
View BVdb publication page