Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R2191C
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PKD1

NM_001009944.3:p.R2191C

Associated Papers

Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases.

Qin Y et al.

Orphanet Journal of Rare Diseases, 2025

Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing.

Zhou X et al.

Journal of Clinical Laboratory Analysis, 2020

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."