GLA c.216G>A ;(p.M72I)

Variant ID: X-100658952-C-T

NM_000169.2(GLA):c.216G>A;(p.M72I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.

Molecular Therapy. Methods & Clinical Development
Lenders, Malte M; Stappers, Franciska F; Brand, Eva E
Publication Date: 2020-12-11

Variant appearance in text: GLA: M72I
PubMed Link: 32995357
Variant Present in the following documents:
  • Main text
  • main.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: M72I
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: GLA: 216G>A
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One
Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H
Publication Date: 2013

Variant appearance in text: GLA: M72I
PubMed Link: 24386359
Variant Present in the following documents:
  • Main text
  • pone.0084267.pdf
View BVdb publication page