Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.V237E
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ETV6

NM_001987.5:p.V237E

Associated Papers

Gene symbol: CYP21A2. Disease: steroid 21-hydroxylase deficiency.

Tardy V

Human Genetics, 2006

Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes.

Koppens PF et al.

Human Genetics, 2002

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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."