Spinocerebellar ataxia type 10 and Huntington disease‐like 2 in Venezuela: Further evidence of two different ancestral founder effects
Article in Annals of Human Genetics (August 2024)
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Deep learning-enhanced R-loop prediction provides mechanistic implications for repeat expansion diseases
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An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome)
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