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Clinical and Genetic Variability among Bulgarian Patients with Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay

Teodora Chamova,Neviana Ivanova,Sylvia Cherninkova,Maya Koleva,Dora Zlatareva,Veneta Bojinova,Kalina Mihova,Martin Georgiev,Dilyan Ferdinandov,Stoyan Bichev,Radka Kaneva,Vanio Mitev,Albena Jordanova,Ivailo Tournev

Molecular Genetics & Genomic Medicine（2024）

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Key words
ARSACS,Bulgarian patients,SACS gene,whole-exome sequencing
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