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2025
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Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.
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S-EPMC12040508
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biostudies-literature
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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
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S-EPMC12493047
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biostudies-literature
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