Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes

Abstract Background The majority of missense variants in clinical genetic tests are classified as variants of uncertain significance. Prior research shows that the deleterious effects and the subsequent molecular consequences of variants are often conserved among paralogous protein sequences within...

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Main Authors: Tobias Brünger, Alina Ivaniuk, Eduardo Pérez-Palma, Ludovica Montanucci, Stacey Cohen, Lacey Smith, Shridhar Parthasarathy, Ingo Helbig, Michael Nothnagel, Patrick May, Dennis Lal
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Genome Biology
Subjects:
Genetics
ACMG
variant classification
missense
sodium channel
Online Access:https://doi.org/10.1186/s13059-025-03663-x
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https://doi.org/10.1186/s13059-025-03663-x

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