SMN1 c.97_99delinsTAA ;(p.I33*)

Variant ID: 5-70234681-ATT-TAA

NM_000344.3(SMN1):c.97_99delinsTAA;(p.I33*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.

Frontiers In Neurology
Bowen, B Monica BM; Truty, Rebecca R; Aradhya, Swaroop S; Bristow, Sara L SL; Johnson, Britt A BA; Morales, Ana A; Tan, Christopher A CA; Westbrook, M Jody MJ; Winder, Thomas L TL; Chavez, Juan C JC
Publication Date: 2021

Variant appearance in text: SMN1: Ile33*
PubMed Link: 34025568
Variant Present in the following documents:
  • Main text
  • fneur-12-663911.pdf
View BVdb publication page