Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.F3064L
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PKD1

NM_001009944.3:p.F3064L

Associated Papers

Two closely spaced missense PKD1 variants in cis cause autosomal dominant polycystic kidney disease in a Chinese family.

Zhang H et al.

Qjm : Monthly Journal of the Association of Physicians, 2025

Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

Afzal AR et al.

Genetic Testing, 2000

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.

Watnick TJ et al.

Human Molecular Genetics, 1997

Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Garcia-Gonzalez MA et al.

Molecular Genetics and Metabolism, 0

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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."