Browsing by Subject "Proteína 1 de sobrevivência do neurônio motor"
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Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
(2020) [Journal article]Objective: The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 (SMN1) gene in a large population of patients with spinal muscular atrophy (SMA) ...