AlphaMissense versus laboratory-based pathogenicity prediction of 13 novel missense variants from pancreatitis cases.

作者信息

Sándor Máté, Scheers Isabelle, Masamune Atsushi, Witt Heiko, LaRusch Jessica, Chen Jian-Min, Németh Balázs Csaba, Geisz Andrea, Uc Aliye, Sahin-Tóth Miklós

机构信息

Department of Surgery, University of California Los Angeles, Los Angeles, California, USA.

Department of Pediatric Gastroenterology and Hepatology, Cliniques universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

出版信息

Gut. 2025 Mar 6;74(4):678-679. doi: 10.1136/gutjnl-2024-333697.

DOI:10.1136/gutjnl-2024-333697

PMID:39256032

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11885027/

Abstract

摘要

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引用本文的文献

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本文引用的文献

[1]

Strengths and limitations of AlphaMissense in missense variant classification.

Gut. 2024-11-11

[2]

Functional predictors of pathogenicity of missense variants in chronic pancreatitis.

Gut. 2024-8-8

[3]

Accurate proteome-wide missense variant effect prediction with AlphaMissense.

Science. 2023-9-22

[4]

Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1).

Int J Mol Sci. 2022-12-7

[5]

Endoplasmic stress-inducing variants in CPB1 and CPA1 and risk of pancreatic cancer: A case-control study and meta-analysis.

Int J Cancer. 2022-4-1

[6]

Human mutation causes digestive enzyme misfolding and chronic pancreatitis in mice.

Gut. 2018-7-25

[7]

Mutations in the pancreatic secretory enzymes and are associated with pancreatic cancer.

Proc Natl Acad Sci U S A. 2018-4-18

[8]

Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.

Curr Opin Gastroenterol. 2017-9

[9]

Variants in CPA1 are strongly associated with early onset chronic pancreatitis.

Nat Genet. 2013-8-18

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AlphaMissense versus laboratory-based pathogenicity prediction of 13 novel missense variants from pancreatitis cases.

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