Varaico: Literature-Extracted Genetic Variants

Gene:CEL
Variant:p.V681fs
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CEL

NM_001807.6:p.V681fs

Associated Papers

Unraveling the genetic basis of MODY: insights from next-generation sequencing.

Eser M et al.

Journal of Applied Genetics, 2025

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Horbacz M et al.

Frontiers in Medicine, 2025

41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5

Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas.

Brekke RS et al.

Human Molecular Genetics, 2024

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