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GLA c.352C>G ;(p.R118G)
Variant ID: X-100658816-G-C
NM_000169.2(
GLA
):c.352C>G;(p.R118G)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Keeping in Touch with Type-III Secretion System Effectors: Mass Spectrometry-Based Proteomics to Study Effector-Host Protein-Protein Interactions.
International Journal Of Molecular Sciences
Meyer, Margaux De M; Ryck, Joren De J; Goormachtig, Sofie S; Van Damme, Petra P
Publication Date: 2020-09-19
Variant appearance in text: GALA: R118G
PubMed Link:
32961832
Variant Present in the following documents:
Main text
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: R118G
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
Plos Genetics
Lukas, Jan J; Giese, Anne-Katrin AK; Markoff, Arseni A; Grittner, Ulrike U; Kolodny, Ed E; Mascher, Hermann H; Lackner, Karl J KJ; Meyer, Wolfgang W; Wree, Phillip P; Saviouk, Viatcheslav V; Rolfs, Arndt A
Publication Date: 2013
Variant appearance in text: GLA: R118G
PubMed Link:
23935525
Variant Present in the following documents:
Main text
pgen.1003632.pdf
View BVdb publication page