Varaico: Literature-Extracted Genetic Variants

Gene:ROPN1L
Variant:p.P2S
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ROPN1L

NM_031916.5:p.P2S

Associated Papers

Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation.

Araujo RS et al.

Clinical Endocrinology, 2005

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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."