Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P95S
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PRH1

NM_001393989.1:p.P95S

Associated Papers

Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.

Fleming A et al.

European Journal of Human Genetics : Ejhg, 2024

Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle.

Hsieh JC et al.

Journal of Cellular Biochemistry, 2010

MEN-4 and other multiple endocrine neoplasias due to cyclin-dependent kinase inhibitors (p27(Kip1) and p18(INK4C)) mutations.

Georgitsi M

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

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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."