GLA c.108G>C ;(p.L36F)

Variant ID: X-100662784-C-G

NM_000169.2(GLA):c.108G>C;(p.L36F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: L36F
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Skrunes, Rannveig R; Tøndel, Camilla C; Leh, Sabine S; Larsen, Kristin Kampevold KK; Houge, Gunnar G; Davidsen, Einar Skulstad ES; Hollak, Carla C; van Kuilenburg, André B P ABP; Vaz, Frédéric M FM; Svarstad, Einar E
Publication Date: 2017-09-07

Variant appearance in text: GLA: 108G>C
PubMed Link: 28625968
Variant Present in the following documents:
  • Main text
View BVdb publication page