Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.S22_S24del3
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NIPA1

NM_144599.5:p.S22_S24del3

Associated Papers

A Novel Frameshift Variant in KIF11 Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family.

Zhang J et al.

Genetic Testing and Molecular Biomarkers, 2025

41342634 (PubMed )
Supplement: sj-pdf-1-gtm-10.1177_19450265251401002.pdf

ABCA6 Regulates Chondrogenesis and Inhibits Joint Degeneration via Orchestrated Cholesterol Efflux and Cellular Senescence.

Wang Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

39823538 (PubMed )
Supplement: ADVS-12-2410414-s003.xlsx › Sheet1

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D
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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."