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Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene | European Journal of Human Genetics
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Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling | Journal of Medical Genetics
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Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene | European Journal of Human Genetics
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Example of noninformative alleles in an SMA family. Markers C212 (upper... | Download Scientific Diagram
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Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: Lessons for carrier diagnosis | Genetics in Medicine
De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. - Abstract - Europe PMC
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PDF) Accuracy of Marker Analysis, Quantitative Real-Time Polymerase Chain Reaction, and Multiple Ligation-Dependent Probe Amplification to Determine SMN2 Copy Number in Patients with Spinal Muscular Atrophy
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Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: Lessons for carrier diagnosis | Genetics in Medicine
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PDF) Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA)
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