Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.P2833R
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PKD1

NM_001009944.3:p.P2833R

Associated Papers

Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.

Chuzhanova N et al.

Human Mutation, 2009

Gene conversion: mechanisms, evolution and human disease.

Chen JM et al.

Nature Reviews. Genetics, 2007

Gene conversion is a likely cause of mutation in PKD1.

Watnick TJ et al.

Human Molecular Genetics, 1998

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

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