Assessing the clinical significance of a novel rare variant in Loeys-Dietz syndrome by combining AI-driven modelling and cell biology
Authors:
- Nihad BoukroutNBNihad Boukrout
- Clément DelageCDClément Delage
- Thomas ComptdaerTCThomas Comptdaer
- Wendy ArondalWAWendy Arondal
- Amine JemelAJAmine Jemel
- Nadia AzabouNANadia Azabou
- Mouna BousninaMBMouna Bousnina
- Molka MalloukiMMMolka Mallouki
- Naoual SabaouniNSNaoual Sabaouni
- Rihab ArbiRARihab Arbi
- Salma KchaouSKSalma Kchaou
- Haithem AmmarHAHaithem Ammar
Open Access
- 1 September 2026
- journal article
- Published by KEAI Publishing in Genes & Diseases
Abstract
No abstract availableThis publication has 5 references indexed in Scilit:
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- Accurate proteome-wide missense variant effect prediction with AlphaMissenseScience, 2023
- DDMut: predicting effects of mutations on protein stability using deep learningNucleic Acids Research, 2023
- Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signalingCold Spring Harbor Molecular Case Studies, 2017
- SIFT: predicting amino acid changes that affect protein functionNucleic Acids Research, 2003