Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.G747Splc
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PKD2

NM_000297.4:p.G747Splc

Associated Papers

Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.

Telis N et al.

Hgg Advances, 2025

40269498 (PubMed )
Supplement: mmc2.xlsx › Sheet1

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

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