Varaico: Literature-Extracted Genetic Variants

Gene:POR
Variant:p.P435Q
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POR

NM_001395413.1:p.P435Q

Associated Papers

Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia.

Zhang R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

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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."