Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q1203*
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PKD1

NM_001009944.3:p.Q1203*

Associated Papers

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.

Fujimaru T et al.

Kidney International Reports, 2024

39291187 (PubMed )
Supplement: mmc1.pdf

Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants.

García Rabaneda C et al.

Journal of Clinical Medicine, 2024

Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.

Wilson PC et al.

Kidney360, 2020

Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Kim H et al.

Scientific Reports, 2019

31740684 (PubMed )
Supplement: 41598_2019_52474_MOESM1_ESM.pdf

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

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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."