Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.I299N
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CYP17A1

NM_000102.4:p.I299N

Associated Papers

17α-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 gene.

Petri C et al.

Hormone Research in Paediatrics, 2014

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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."