Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.Y723C
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NPHP4

NM_015102.5:p.Y723C

Associated Papers

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.

König JC et al.

Kidney International Reports, 2022

36090483 (PubMed )
Supplement: mmc1.pdf

Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies.

Liu Y et al.

Frontiers in Genetics, 2021

34675960 (PubMed )
Supplement: Table1.XLSX › Sheet1

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

Otto EA et al.

Journal of Medical Genetics, 2011

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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."