ADA c.733G>T ;(p.D245Y)

Variant ID: 20-43251517-C-A

NM_000022.2(ADA):c.733G>T;(p.D245Y)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: ADA: D245Y
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page