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GLA c.109G>T ;(p.A37S)
Variant ID: X-100662783-C-A
NM_000169.2(
GLA
):c.109G>T;(p.A37S)
This variant was identified in 5 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: A37S
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: Ala37Ser
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: Ala37Ser
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: Ala37Ser
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: A37S
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program.
Nephron
Moiseev, Sergey S; Fomin, Victor V; Savostyanov, Kirill K; Pushkov, Alexander A; Moiseev, Alexey A; Svistunov, Andrey A; Namazova-Baranova, Leyla L
Publication Date: 2019
Variant appearance in text: GLA: 109G>T; A37S
PubMed Link:
30677769
Variant Present in the following documents:
Main text
View BVdb publication page