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GLA c.781G>T ;(p.G261C)
Variant ID: X-100653793-C-A
NM_000169.2(
GLA
):c.781G>T;(p.G261C)
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:
Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.
High Blood Pressure & Cardiovascular Prevention : The Official Journal Of The Italian Society Of Hypertension
Rossi, Federica F; Svarstad, Einar E; Elsaid, Hassan H; Binaggia, Agnese A; Roggero, Letizia L; Auricchio, Sara S; Marti, Hans-Peter HP; Pieruzzi, Federico F
Publication Date: 2021-05
Variant appearance in text: GLA: G261C
PubMed Link:
33844184
Variant Present in the following documents:
Main text
40292_2021_Article_450.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: G261C
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: G261C
PubMed Link:
30477121
Variant Present in the following documents:
Main text
ijms-19-03726.pdf
View BVdb publication page