Varaico: Literature-Extracted Genetic Variants

Gene:NPNT
Variant:p.V259insFs
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NPNT

NM_001033047.3:p.V259insFs

Associated Papers

Integrated Prenatal Genetic Evaluation of Renal Agenesis: Chromosomal Microarray Analysis, Whole Exome Sequencing, and Outcome Correlations in 203 Fetuses.

Zhang N et al.

Genes, 2026

41751559 (PubMed )
Supplement: genes-17-00176-s001.zip › Supplementary_File_S2.xlsx › Sheet1

A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis.

Al-Hamed MH et al.

Clinical Genetics, 2022

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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."