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Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.
medRxiv [Preprint]. 2024 Feb 18:2024.02.16.24302945. doi: 10.1101/2024.02.16.24302945.
medRxiv. 2024.
PMID: 38405699
Free PMC article.
Preprint.
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
Jensen TD, Ni B, Reuter CM, Gorzynski JE, Fazal S, Bonner D, Ungar RA, Goddard PC, Raja A, Ashley EA, Bernstein JA, Zuchner S; Undiagnosed Diseases Network; Greicius MD, Montgomery SB, Schatz MC, Wheeler MT, Battle A.
Jensen TD, et al.
medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304565. doi: 10.1101/2024.03.22.24304565.
medRxiv. 2024.
PMID: 38585781
Free PMC article.
Preprint.
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