Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.E890_D891Splc
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PKD2

NM_000297.4:p.E890_D891Splc

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

Pharmacogenetic profiling of dihydropyrimidine dehydrogenase (DPYD) variants in the Indian population.

Naushad SM et al.

The Journal of Gene Medicine, 2021

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P et al.

Scientific Reports, 2016

27499327 (PubMed )
Supplement: srep30850-s4.xlsx › Sheet1
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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."