Variant ID: 5-70240504-G-GC

NM_000344.3(SMN1):c.650dup;(p.P218Tfs*38)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Urine-derived induced pluripotent/neural stem cells for modeling neurological diseases.

Cell & Bioscience
Shi, Tianyuan T; Cheung, Martin M
Publication Date: 2021-05-13

Variant appearance in text: SMA: 649dupC
PubMed Link: 33985584
Variant Present in the following documents:
  • Main text
  • 13578_2021_Article_594.pdf
View BVdb publication page