Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.N1870I
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PKD1

NM_001009944.3:p.N1870I

Associated Papers

Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China.

Zhou C et al.

Bmc Nephrology, 2025

Asian Screening Array and Next-Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis.

Ren J et al.

Prenatal Diagnosis, 2024

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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."