Varaico: Literature-Extracted Genetic Variants

Gene:NOS1AP
Variant:p.R115Splc
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NOS1AP

NM_014697.3:p.R115Splc

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

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

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.

Majmundar AJ et al.

Science Advances, 2021

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