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VPS13A c.1950T>A ;(p.N650K)
Variant ID: 9-79862224-T-A
NM_033305.2(
VPS13A
):c.1950T>A;(p.N650K)
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:
Is the transportation highway the right road for hereditary spastic paraplegia?
American Journal Of Human Genetics
Crosby, Andrew H AH; Proukakis, Christos C
Publication Date: 2002-11
Variant appearance in text: CHAC: N650K
PubMed Link:
12355399
Variant Present in the following documents:
Main text
View BVdb publication page