Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.D2290Y
Back to variants list

PKD1

NM_001009944.3:p.D2290Y

Associated Papers

Prenatal Diagnosis and Postnatal Outcomes of Fetal ADPKD: A Single-Center Retrospective Cohort Study.

Kim S et al.

Medicina (kaunas, Lithuania), 2025

PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.

Yu CC et al.

Npj Genomic Medicine, 2022

Novel PKD1 Mutations in Patients with Autosomal Dominant Polycystic Kidney Disease.

Kim H et al.

Laboratory Medicine, 2021

28 novel mutations identified from 33 Chinese patients with cilia-related kidney disorders.

Liang N et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."