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- [3] Reply to correspondence from Cobben and de Visser - "SMN2-deletion in childhood-onset spinal muscular atrophy" AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 109 (03): : 247 - 247
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- [8] Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy BRAIN & DEVELOPMENT, 2009, 31 (01): : 42 - 45