Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.K706_G707Splc
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PKD2

NM_000297.4:p.K706_G707Splc

Associated Papers

Single-Base Substitution Causing Dual-Exon Skipping Event in PKD2 Gene: Unusual Molecular Finding from Exome Sequencing in a Patient with Autosomal Dominant Polycystic Kidney Disease.

De Paolis E et al.

Journal of Clinical Medicine, 2024

Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants.

Nielsen ML et al.

European Journal of Medical Genetics, 2021

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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."