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VPS13A c.1592del ;(p.I531Kfs*7)
Variant ID: 9-79843177-AT-A
NM_033305.2(
VPS13A
):c.1592del;(p.I531Kfs*7)
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:
Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis.
Movement Disorders Clinical Practice
Nagy, Anna A; Noyce, Alastair A; Velayos-Baeza, Antonio A; Lees, Andrew J AJ; Warner, Thomas T TT; Ling, Helen H
Publication Date: 2015-06
Variant appearance in text: VPS13A: 1592delT; I531KfsX7
PubMed Link:
30713892
Variant Present in the following documents:
Main text
View BVdb publication page