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HR c.742C>A ;(p.L248M)
Variant ID: 8-21985213-G-T
NM_005144.4(
HR
):c.742C>A;(p.L248M)
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:
Molecular architecture of a dynamin adaptor: implications for assembly of mitochondrial fission complexes.
The Journal Of Cell Biology
Koirala, Sajjan S; Bui, Huyen T HT; Schubert, Heidi L HL; Eckert, Debra M DM; Hill, Christopher P CP; Kay, Michael S MS; Shaw, Janet M JM
Publication Date: 2010-12-13
Variant appearance in text: HR: L248M
PubMed Link:
21149566
Variant Present in the following documents:
Main text
JCB_201005046.pdf
View BVdb publication page