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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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