Varaico: Literature-Extracted Genetic Variants

Gene:ANKLE1
Variant:p.A576_G577delFs
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ANKLE1

NM_152363.6:p.A576_G577delFs

Associated Papers

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

Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

Kanazawa N et al.

Nature Communications, 2021

34819510 (PubMed )
Supplement: 41467_2021_27085_MOESM1_ESM.pdf
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