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Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1
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Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene
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Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
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Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy
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Kristine B. Walhovd, Anders M. Fjell, Øystein Sørensen, et al.

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Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue
Katherine E. Miller, Daniel C. Koboldt, Kathleen M. Schieffer, et al.

June 17, 2020
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Synonymous variants associated with Alzheimer disease in multiplex families
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Integrative analysis identifies the association between CASZ1 methylation and ischemic stroke
Xing-Bo Mo, Huan Zhang, Ai-Li Wang, et al.

September 01, 2020

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