Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative disorders with autosomal dominant inheritance. Genetic testing for SCA leads to diagnosis, prognosis and risk assessment for patients and their family members. While advances in sequencing and computing technologies have prov...

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Bibliographic Details
Main Authors: Fatemeh Ghorbani, Mohamed Z. Alimohamed, Juliana F. Vilacha, Krista K. Van Dijk, Jelkje De Boer-Bergsma, Michiel R. Fokkens, Henny Lemmink, Rolf H. Sijmons, Birgit Sikkema-Raddatz, Matthew R. Groves, Corien C. Verschuuren-Bemelmans, Dineke S. Verbeek, Cleo C. Van Diemen, Helga Westers
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Genetics
Subjects:
genetic diagnostics
variant of unknown significance
spinocerebellar ataxia
gene panel
functional studies
protein modeling
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.782685/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.782685/full

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