Varaico: Literature-Extracted Genetic Variants

Gene:NPHP3
Variant:p.R973*
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NPHP3

NM_153240.5:p.R973*

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

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.

König JC et al.

Kidney International Reports, 2022

36090483 (PubMed )
Supplement: mmc1.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."