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GLA c.1073A>G ;(p.E358G)
Variant ID: X-100653014-T-C
NM_000169.2(
GLA
):c.1073A>G;(p.E358G)
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:
Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.
Journal Of Personalized Medicine
Jurickova, Katarina K; Jungova, Petra P; Petrovic, Robert R; Mattosova, Slavomira S; Hlavata, Tereza T; Kostalova, Ludmila L; Hlavata, Anna A
Publication Date: 2022-06-01
Variant appearance in text: GLA: 1073A>G; Glu358Gly
PubMed Link:
35743707
Variant Present in the following documents:
jpm-12-00922.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: E358G
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
International Journal Of Molecular Sciences
Duro, Giovanni G; Zizzo, Carmela C; Cammarata, Giuseppe G; Burlina, Alessandro A; Burlina, Alberto A; Polo, Giulia G; Scalia, Simone S; Oliveri, Roberta R; Sciarrino, Serafina S; Francofonte, Daniele D; Alessandro, Riccardo R; Pisani, Antonio A; Palladino, Giuseppe G; Napoletano, Rosa R; Tenuta, Maurizio M; Masarone, Daniele D; Limongelli, Giuseppe G; Riccio, Eleonora E; Frustaci, Andrea A; Chimenti, Cristina C; Ferri, Claudio C; Pieruzzi, Federico F; Pieroni, Maurizio M; Spada, Marco M; Castana, Cinzia C; Caserta, Marina M; Monte, Ines I; Rodolico, Margherita Stefania MS; Feriozzi, Sandro S; Battaglia, Yuri Y; Amico, Luisa L; Losi, Maria Angela MA; Autore, Camillo C; Lombardi, Marco M; Zoccali, Carmine C; Testa, Alessandra A; Postorino, Maurizio M; Mignani, Renzo R; Zachara, Elisabetta E; Giordano, Antonello A; Colomba, Paolo P
Publication Date: 2018-11-23
Variant appearance in text: GLA: E358G
PubMed Link:
30477121
Variant Present in the following documents:
Main text
ijms-19-03726.pdf
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: E358G
PubMed Link:
24386359
Variant Present in the following documents:
Main text
pone.0084267.pdf
View BVdb publication page