Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.H115H
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GLA

NM_000169.3:p.H115H

Associated Papers

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

33016649 (PubMed )
Supplement: MGG3-8-e1502-s001.xlsx › Table_S1

Fabry disease screening in high-risk populations in Japan: a nationwide study.

Yoshida S et al.

Orphanet Journal of Rare Diseases, 2020

32843101 (PubMed )
Supplement: 13023_2020_1494_MOESM3_ESM.xlsx › Table_2
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