Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.K213_P214Splc
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GLA

NM_000169.3:p.K213_P214Splc

Associated Papers

Black Patients Equally Benefit From Renal Genetics Evaluation but Substantial Barriers in Access Exist.

Borden C et al.

Kidney International Reports, 2023

37850009 (PubMed )
Supplement: mmc1.pdf

Fabry Disease with Aseptic Meningitis: A Case Series and Literature Review of an Underestimated Clinical Presentation.

Tang MY et al.

Current Medical Science, 2022

High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations.

Nakagawa N et al.

Journal of Human Genetics, 2019

Prevalence of Fabry disease in male dialysis patients: Argentinean screening study.

Frabasil J et al.

Jimd Reports, 2019

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.

Shabbeer J et al.

Human Genomics, 2006

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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."