Varaico: Literature-Extracted Genetic Variants

Gene:NPNT
Variant:p.Y238*
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NPNT

NM_001033047.3:p.Y238*

Associated Papers

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.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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