Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.P2087_R2088insFs
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PKD1

NM_001009944.3:p.P2087_R2088insFs

Associated Papers

Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.

Ercoskun P et al.

Clinical Genetics, 2025

Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome.

Yavaş C et al.

Revista Da Associacao Medica Brasileira (1992), 2022

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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."