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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLA

Variant:p.I26insFs

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GLA

NM_000169.3:p.I26insFs

hg38:chrX:101407826 G>GA

Associated Papers

Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.

Yao F et al.

Human Genomics, 2024

39609713 (PubMed )

Supplement: 40246_2024_697_MOESM1_ESM.xlsx › Table_S1_ACMG

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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."