Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.K4017N
Back to variants list

PKD1

NM_001009944.3:p.K4017N

Associated Papers

Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.

Cristalli CP et al.

Genes, 2025

40428294 (PubMed )
Supplement: genes-16-00472-s001.zip › TableS2.xlsx › TableS2

Ultrasound features of a bilineal inheritance of autosomal dominant polycystic kidney disease.

Montaguti E et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

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-s6.xls › Sheet1
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."