Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA6
Variant:p.W97C
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NDUFA6

NM_002490.6:p.W97C

Associated Papers

Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.

Robins T et al.

Molecular Endocrinology (baltimore, Md.), 2006

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

White PC et al.

Endocrine Reviews, 2000

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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."