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.




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