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Streamlined two-step fragment analysis PCR and exome sequencing of RFC1 for diagnostic testing of suspectedCANVAS patients
Helena Jaklič, Ivana Babić Božović, Borut Peterlin, Anja Kovanda, Anja Kovanda
Kratki znanstveni prispevek
Oznake: CANVAS;cerebellar ataxia neuronopathy vestibular areflexia syndrome;clinical genetics;
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is causedby biallelic pathogenic expansions, or compound heterozygosity with other patho-genic variants in the RFC1 gene. CANVAS is estimated to be underdiagnosed, bothbecause of the lack of formal diagnostic criteria and mole ...
Leto: 2024 Vir: Medicinska fakulteta (UL MF)
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