Varaico: Literature-Extracted Genetic Variants

Gene:GOLPH3
Variant:p.R14W
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GOLPH3

NM_022130.4:p.R14W

Associated Papers

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

Iolascon A et al.

Haematologica, 2010

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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."