Varaico: Literature-Extracted Genetic Variants

Gene:CEL
Variant:p.P680insFs
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CEL

NM_001807.6:p.P680insFs

Associated Papers

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.

Handoko et al.

Scientific Reports, 2025

40594369 (PubMed )
Supplement: 41598_2025_6096_MOESM1_ESM.xlsx › S2

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

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Subramanian DN et al.

Nature Communications, 2020

32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1

Our Experiences and Learnings in Diagnosing MODY from Non-Institutional-Based Diabetes Care Clinics.

Pande AR et al.

Indian Journal of Endocrinology and Metabolism, 0

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