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Your search keyword '"Arteche-López, Ana"' showing total 5 results

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5 results on '"Arteche-López, Ana"'

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1. New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in theRFC1gene

2. Adult‐onset nemaline myopathy due to a novel homozygous variant in theTNNT1gene

3. First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection

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