Varaico: Literature-Extracted Genetic Variants

Gene:NOS1AP
Variant:p.M369Splc
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NOS1AP

NM_014697.3:p.M369Splc

Associated Papers

Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.

Buerger F et al.

Nature Communications, 2025

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.

Lemberg K et al.

Kidney International Reports, 2025

41141495 (PubMed )
Supplement: mmc1.pdf

Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.

Buerger F et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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