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VPS13A c.4130_4136del ;(p.T1377Mfs*3)
Variant ID: 9-79928923-ACAGCTGC-A
NM_033305.2(
VPS13A
):c.4130_4136del;(p.T1377Mfs*3)
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:
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
Jama Neurology
Montaut, Solveig S; Tranchant, Christine C; Drouot, Nathalie N; Rudolf, Gabrielle G; Guissart, Claire C; Tarabeux, Julien J; Stemmelen, Tristan T; Velt, Amandine A; Fourrage, Cécile C; Nitschké, Patrick P; Gerard, Bénédicte B; Mandel, Jean-Louis JL; Koenig, Michel M; Chelly, Jamel J; Anheim, Mathieu M; ,
Publication Date: 2018-10-01
Variant appearance in text: VPS13A: T1377Mfs*3
PubMed Link:
29913018
Variant Present in the following documents:
Main text
View BVdb publication page