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ADA c.101G>A ;(p.R34K)
Variant ID: 20-43257805-C-T
NM_000022.2(
ADA
):c.101G>A;(p.R34K)
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:
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: ADA: 101G>A
PubMed Link:
31589614
Variant Present in the following documents:
pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page
Glucagon-Like Peptide-1 Receptor Agonists for Type 2 Diabetes: A Clinical Update of Safety and Efficacy.
Current Diabetes Reviews
Drab, Scott R SR
Publication Date: 2016
Variant appearance in text: ADA: Arg34Lys
PubMed Link:
26694823
Variant Present in the following documents:
Main text
CDR-12-403.pdf
View BVdb publication page