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.
Abstract
摘要
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Strengths and limitations of AlphaMissense in missense variant classification.
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Accurate proteome-wide missense variant effect prediction with AlphaMissense.
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Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1).
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