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Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.
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Scientific Reports, 2025
Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.
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Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.
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What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
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32680510 (PubMed )
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