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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLA

Variant:p.C90insFs

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GLA

NM_000169.3:p.C90insFs

hg38:chrX:101403909 T>TG

Associated Papers

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.

Nampoothiri S et al.

Jimd Reports, 2020

33204599 (PubMed )

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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."