Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C202fs
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GLA

NM_000169.3:p.C202fs

Associated Papers

Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha (GLA) gene.

Nunes JPL et al.

Porto Biomedical Journal, 0

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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."