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GLA c.326A>G ;(p.D109G)
Variant ID: X-100658842-T-C
NM_000169.2(
GLA
):c.326A>G;(p.D109G)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Diagnostics (Basel, Switzerland)
Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K
Publication Date: 2021-09-27
Variant appearance in text: GLA: D109G
PubMed Link:
34679477
Variant Present in the following documents:
Main text
diagnostics-11-01779.pdf
View BVdb publication page
Erratum to: Screening of Fabry disease in patients with chronic kidney disease in Japan.
Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-11-09
Variant appearance in text: GLA: Asp109Gly
PubMed Link:
34535801
Variant Present in the following documents:
Main text
gfab234.pdf
View BVdb publication page
Screening of Fabry disease in patients with chronic kidney disease in Japan.
Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-07-19
Variant appearance in text: GLA: Asp109Gly
PubMed Link:
34282462
Variant Present in the following documents:
gfaa324.pdf
View BVdb publication page
Screening of Fabry disease in patients with chronic kidney disease in Japan.
Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-12-31
Variant appearance in text: GLA: Asp109Gly
PubMed Link:
34282462
Variant Present in the following documents:
gfaa324.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: D109G
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.
Indian Journal Of Nephrology
Jaurretche, Sebastián P A SPA; Antongiovanni, Norberto N; Perretta, Fernando F
Publication Date: 2019
Variant appearance in text: GLA: D109G
PubMed Link:
31798221
Variant Present in the following documents:
Main text
View BVdb publication page
Prevalence of Fabry disease in male dialysis patients: Argentinean screening study.
Jimd Reports
Frabasil, Joaquín J; Durand, Consuelo C; Sokn, Silvia S; Gaggioli, Daniela D; Carozza, Patricia P; Carabajal, Ricardo R; Politei, Juan J; Schenone, Andrea B AB
Publication Date: 2019-07
Variant appearance in text: GLA: D109G
PubMed Link:
31392112
Variant Present in the following documents:
Main text
JMD2-48-45.pdf
View BVdb publication page