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10.1016/s0022-5347(17)35291-6 Pubmed Abstract CrossRef Google Scholar View reference in article 13
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Biochemistry 45 (11), 36843691
A de novo missense mutation in exon 3 of the MECP2 gene (P225L) has been found in a male with severe mental retardation, spastic tetraplegia, dystonia, apraxia, and neurogenic scoliosis (178)
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