Varaico: Literature-Extracted Genetic Variants

Gene:NPHP3
Variant:p.C1134_A1135delFs
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NPHP3

NM_153240.5:p.C1134_A1135delFs

Associated Papers

Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis.

Cai M et al.

Frontiers in Pediatrics, 2025

Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.

Huang Z et al.

Kidney International Reports, 2023

38025242 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Renal-hepatic-pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature.

Zhu H et al.

Bmc Pediatrics, 2022

Renal-hepatic-pancreatic dysplasia-1 diagnosed on comprehensive gene analysis.

Inaguma Y et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2019

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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."