Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome

Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome

IntroductionAdvanced genetic strategies have transformed our understanding of the genetic basis and diagnosis of many phenotypes, including rare diseases. However, missense variants (MVs) are frequently identified and often classified as variants of uncertain significance (VUS). Although changes in...

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Main Authors: Macarena Gajardo, José Luis Guerrero, Bárbara Poblete, Esperanza Bayyad, Ignacio Castro, Jorge Maturana, Jaime Tobar, Víctor Faúndes, Paola Krall
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Molecular Biosciences
Subjects:
missense variant
bioinformatics
free energy changes
Mainzer-Saldino Syndrome
ciliopathy
IFT140
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2025.1561380/full
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https://www.frontiersin.org/articles/10.3389/fmolb.2025.1561380/full

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