Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S2084_R2089del6
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PKD1

NM_001009944.3:p.S2084_R2089del6

Associated Papers

A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.

Chen Q et al.

Bmc Medical Genomics, 2025

New Mutation Associated with Polycystic Kidney Disease Type I: A Case Report.

Rai V et al.

Genes, 2024

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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."