TG c.3965del ;(p.L1322Wfs*4)

Variant ID: 8-133920546-AT-A

NM_003235.4(TG):c.3965del;(p.L1322Wfs*4)

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:

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.

Bmc Pediatrics
Wang, Jing J; Yu, Yuping Y; Cai, Chunquan C; Zhi, Xiufang X; Zhang, Ying Y; Zhao, Yu Y; Shu, Jianbo J
Publication Date: 2022-05-16

Variant appearance in text: TG: 3964delT
PubMed Link: 35578201
Variant Present in the following documents:
  • 12887_2022_Article_3252.pdf
View BVdb publication page