GLA c.128G>A ;(p.G43D)

Variant ID: X-100662764-C-T

NM_000169.2(GLA):c.128G>A;(p.G43D)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: GLA: 128G>A
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 128G>A; Gly43Asp
PubMed Link: 35743707
Variant Present in the following documents:
  • jpm-12-00922.pdf
View BVdb publication page



Clinical and genetic spectrum in Chinese families with Fabry disease: a single-centre case series.

Esc Heart Failure
Chen, Xin X; Li, Hezhi H; Liao, Hongtao H; Zhan, Xianzhang X; Zhong, Zhian Z; Zhang, Qianhuan Q; Liu, Lie L; Liang, Yuanhong Y; Deng, Hai H; Fang, Xianhong X; Xue, Yumei Y; Wu, Shulin S; Liu, Yang Y
Publication Date: 2021-10-26

Variant appearance in text: GLA: Gly43Asp
PubMed Link: 34704396
Variant Present in the following documents:
  • Main text
  • EHF2-8-5436.pdf
View BVdb publication page



Clinical and genetic spectrum in Chinese families with Fabry disease: a single-centre case series.

Esc Heart Failure
Chen, Xin X; Li, Hezhi H; Liao, Hongtao H; Zhan, Xianzhang X; Zhong, Zhian Z; Zhang, Qianhuan Q; Liu, Lie L; Liang, Yuanhong Y; Deng, Hai H; Fang, Xianhong X; Xue, Yumei Y; Wu, Shulin S; Liu, Yang Y
Publication Date: 2021-12

Variant appearance in text: GLA: Gly43Asp
PubMed Link: 34704396
Variant Present in the following documents:
  • Main text
  • EHF2-8-5436.pdf
View BVdb publication page



Newborn screening for Fabry disease in the western region of Japan.

Molecular Genetics And Metabolism Reports
Sawada, Takaaki T; Kido, Jun J; Yoshida, Shinichiro S; Sugawara, Keishin K; Momosaki, Ken K; Inoue, Takahito T; Tajima, Go G; Sawada, Hirotake H; Mastumoto, Shirou S; Endo, Fumio F; Hirose, Shinichi S; Nakamura, Kimitoshi K
Publication Date: 2020-03

Variant appearance in text: GLA: G43D
PubMed Link: 31956509
Variant Present in the following documents:
  • Main text
  • main.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: G43D
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page