Varaico: Literature-Extracted Genetic Variants

Gene:CELA3B
Variant:p.E154K
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CELA3B

NM_007352.4:p.E154K

Associated Papers

The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis.

Masson E et al.

Human Mutation, 2021

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Zlotina A et al.

Bmc Medical Genomics, 2020

33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1

Detection of human elastase isoforms by the ScheBo Pancreatic Elastase 1 Test.

Tóth AZ et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2017

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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."