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LRRK2 c.40_41delinsAG ;(p.E14R)
Variant ID: 12-40618973-GA-AG
NM_198578.3(
LRRK2
):c.40_41delinsAG;(p.E14R)
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:
Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.
American Journal Of Human Genetics
Lautier, Corinne C; Goldwurm, Stefano S; Dürr, Alexandra A; Giovannone, Barbara B; Tsiaras, William G WG; Pezzoli, Gianni G; Brice, Alexis A; Smith, Robert J RJ
Publication Date: 2008-04
Variant appearance in text: LRRK2: E14R
PubMed Link:
18358451
Variant Present in the following documents:
Main text
View BVdb publication page