Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.P24L
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PKD2

NM_000297.4:p.P24L

Associated Papers

Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.

Reiterová J et al.

Human Mutation, 2002

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD et al.

Experimental Dermatology, 1996

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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."