Varaico: Literature-Extracted Genetic Variants

Gene:NPNT
Variant:p.K260*
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NPNT

NM_001184690.2:p.K260*

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

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

Al-Hamed MH et al.

Clinical Genetics, 2022

A Biallelic Frameshift Mutation in Nephronectin Causes Bilateral Renal Agenesis in Humans.

Dai L et al.

Journal of the American Society of Nephrology : Jasn, 2021

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