Pathogenicity Assessment of Genetic Variants Identified in Patients with Severe Hypertriglyceridemia: Novel Cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.

Mj Ariza, I. Coca-Prieto,José Rioja,Ovidio Muñiz-Grijalvo, Daniel Zambón-Rados, Agustín Blanco-Echavarría,Teresa Arrobas-Velilla,Javier Delgado-Lista,David León-Jiménez, Marta Casañas-Martínez, Luis A. Álvarez-Sala-Walther, Liliana Gutiérrez-Carrasquilla, Justo Sánchez-Gil,Mónica Domènech,Andrés González-Jiménez, Ma José Benítez-Toledo,Javier Espíldora-Hernández,Emilio Ortega-Martínez de Victoria, Ma Sánchez-Chaparro,Pedro Valdivielso

Genetics in Medicine（2025）

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Key words

Severe Hypertriglyceridemia,Familial Chylomicronemia Syndrome,Next Generation Sequencing,ACMG-AMP criteria,Variant pathogenicity assessment

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