GAA c.265del ;(p.R89Afs*53)

Variant ID: 17-78078648-GC-G

NM_000152.3(GAA):c.265del;(p.R89Afs*53)

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:

Neonatal PURA syndrome: a case report and literature review.

Translational Pediatrics
Liu, Ying Y; Liu, Rui R; Xu, Tong T; Zhou, Yu-Xin YX; Zhang, Shuang-Chuan SC
Publication Date: 2021-01

Variant appearance in text: GAA: 264delC
PubMed Link: 33633953
Variant Present in the following documents:
  • Main text
View BVdb publication page