Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.M423I
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GLA

NM_000169.3:p.M423I

Associated Papers

Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency.

Kanno H et al.

Blood, 1997

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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."