Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.V291M
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C2

NM_000063.6:p.V291M

Associated Papers

Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.

Erdos M et al.

Molecular Genetics and Metabolism, 2008

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Zhou J et al.

Molecular Vision, 2008

Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind).

Laosombat V et al.

Blood Cells, Molecules & Diseases, 0

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