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HP c.49T>C ;(p.F17L)
Variant ID: 16-72090103-T-C
NM_005143.3(
HP
):c.49T>C;(p.F17L)
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:
Biochemical analysis of active site mutations of human polymerase η.
Mutation Research
Suarez, Samuel C SC; Beardslee, Renee A RA; Toffton, Shannon M SM; McCulloch, Scott D SD
Publication Date: 2013
Variant appearance in text: HP: F17L
PubMed Link:
23499771
Variant Present in the following documents:
Main text
View BVdb publication page