GAA c.1972_1973delinsAC ;(p.C658T)

Variant ID: 17-78086758-TG-AC

NM_000152.3(GAA):c.1972_1973delinsAC;(p.C658T)

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:

Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders
Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á
Publication Date: 2021-12

Variant appearance in text: GAA: C658T
PubMed Link: 34241766
Variant Present in the following documents:
  • 11154_2021_9671_MOESM1_ESM.pdf
View BVdb publication page