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AMACR c.242G>T ;(p.R81L)
Variant ID: 5-34007883-C-A
NM_014324.5(
AMACR
):c.242G>T;(p.R81L)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Discovery of a novel type IIb RelBE toxin-antitoxin system in Mycobacterium tuberculosis defined by co-regulation with an antisense RNA.
Molecular Microbiology
Dawson, Clinton C CC; Cummings, Jason E JE; Starkey, Julie M JM; Slayden, Richard A RA
Publication Date: 2022-06
Variant appearance in text: RACE: R81L
PubMed Link:
35526138
Variant Present in the following documents:
Main text
View BVdb publication page
The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.
Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02
Variant appearance in text: N/A
PubMed Link:
34078906
Variant Present in the following documents:
View BVdb publication page