5 results on '"Arteche-López, Ana"'
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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
4. SOD1 mutations in adult‐onset distal spinal muscular atrophy
5. Comment on: Soft cerebellar signs unveil RARS2-related epilepsy.
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