Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.A13P
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GLA

NM_000169.3:p.A13P

Associated Papers

High prevalence and distinctive clinical features of LMNA-associated atrioventricular block in young patients.

Chen X et al.

American Heart Journal, 2024

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

Chen X et al.

Esc Heart Failure, 2021

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

29875424 (PubMed )
Supplement: 41436_2018_46_MOESM1_ESM.xlsx › Table_S3

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Unknown
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."