Varaico: Literature-Extracted Genetic Variants

Gene:PKP3
Variant:p.R673C
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PKP3

NM_007183.4:p.R673C

Associated Papers

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development.

Jin HJ et al.

Elife, 2023

38126872 (PubMed )
Supplement: elife-92769-fig2-data1.zip › Figure_2-source_data_1 › Figure_2-source_data_1 › Figure_2-source_data_1.xlsx › Table

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene.

Ono H et al.

Scientific Reports, 2018

29396419 (PubMed )
Supplement: 41598_2018_20691_MOESM1_ESM.pdf
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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."