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Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problemsDe novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and femalesRange of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyIdentification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
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