GLA c.902G>T ;(p.R301L)

Variant ID: X-100653455-C-A

NM_000169.2(GLA):c.902G>T;(p.R301L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.

Genes
Moiseev, Sergey S; Tao, Ekaterina E; Moiseev, Alexey A; Bulanov, Nikolay N; Filatova, Ekaterina E; Fomin, Victor V; Germain, Dominique P DP
Publication Date: 2022-09-09

Variant appearance in text: GLA: 902G>T; Arg301Leu
PubMed Link: 36140787
Variant Present in the following documents:
  • genes-13-01619.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GLA: R301L
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page