Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q1390*
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PKD1

NM_001009944.3:p.Q1390*

Associated Papers

Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.

Ercoskun P et al.

Clinical Genetics, 2025

Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.

Liu X et al.

Clinical Kidney Journal, 2025

39802589 (PubMed )
Supplement: sfae356_supplemental_file.pdf

Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome.

Yavaş C et al.

Revista Da Associacao Medica Brasileira (1992), 2022

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Mantovani V et al.

Frontiers in Genetics, 2020

32457805 (PubMed )
Supplement: Data_Sheet_1.PDF
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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."