Varaico: Literature-Extracted Genetic Variants

Gene:POR
Variant:p.L550L
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POR

NM_001395413.1:p.L550L

Associated Papers

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.

Parween S et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Genetic polymorphisms and haplotypes of por, encoding cytochrome p450 oxidoreductase, in a Japanese population.

Saito Y et al.

Drug Metabolism and Pharmacokinetics, 2011

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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."