Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.A143V
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GLA

NM_000169.3:p.A143V

Associated Papers

Newborn Screening for 6 Lysosomal Storage Disorders in China.

Chang S et al.

Jama Network Open, 2024

Population Frequency of Undiagnosed Fabry Disease in the General Population.

Kermond-Marino A et al.

Kidney International Reports, 2023

37441486 (PubMed )
Supplement: mmc1.pdf

Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.

Sawada T et al.

Molecular Genetics & Genomic Medicine, 2020

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

Sawada T et al.

Molecular Genetics and Metabolism Reports, 2020

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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."