Varaico: Literature-Extracted Genetic Variants

Gene:CEL
Variant:p.K493Q
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CEL

NM_001807.6:p.K493Q

Associated Papers

Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes.

Sun S et al.

Endocrine, 2024

Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes.

Wu H et al.

Bmj Open Diabetes Research & Care, 2023

36634979 (PubMed )
Supplement: bmjdrc-2022-003127supp002.pdf

Precision Diagnosis of Maturity-Onset Diabetes of the Young with Next-Generation Sequencing: Findings from the MODY-IST Study in Adult Patients.

Aydogan HY et al.

Omics : a Journal of Integrative Biology, 2022

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
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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."