Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.A3294T
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PKD1

NM_001009944.3:p.A3294T

Associated Papers

A complete mutation screen of the ADPKD genes by DHPLC.

Rossetti S et al.

Kidney International, 2002

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

Rossetti S et al.

American Journal of Human Genetics, 2001

Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.

Koptides M et al.

Human Mutation, 2000

Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.

Peral B et al.

American Journal of Human Genetics, 1997

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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."