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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NOS1AP

Variant:p.I116fs

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NOS1AP

NM_014697.3:p.I116fs

hg38:chr1:162333018 ATC>N

Associated Papers

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

Majmundar AJ et al.

Science Advances, 2021

33523862 (PubMed )

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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."