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HEXA c.1462A>T ;(p.K488*)
Variant ID: 15-72637851-T-A
NM_000520.4(
HEXA
):c.1462A>T;(p.K488*)
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:
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08
Variant appearance in text: HEXA: 1462A>T; K488X
PubMed Link:
33860439
Variant Present in the following documents:
12035_2021_2377_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page