GAA c.1006_1008del ;(p.I336del)

Variant ID: 17-78082139-GATC-G

NM_000152.3(GAA):c.1006_1008del;(p.I336del)

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:

Treatment experience in two adults with creatinfe transporter deficiency.

Molecular Genetics And Metabolism Reports
Schjelderup, Jack J; Hope, Sigrun S; Vatshelle, Christian C; van Karnebeek, Clara D M CDM
Publication Date: 2021-06

Variant appearance in text: GAA: 1006_1008del
PubMed Link: 33665121
Variant Present in the following documents:
  • main.pdf
View BVdb publication page