Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.P434L
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CYP17A1

NM_000102.4:p.P434L

Associated Papers

Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.

Wang M et al.

Clinical Hypertension, 2019

Rare hypertension as a result of 17alpha-hydroxylase deficiency.

Wang W et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011

Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.

Yang J et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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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."