<i>RAI1</i> variants in SMS patients without 17p11.2 deletion identified in the current study.
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NA: DNA was not available. aThis case was classified as ‘de novo’ due to pathogenicity of the nonsense mutation, note that parental DNA could not be analyzed. bOnly sequence around c.707A>T available, polyQ was not sequenced. cReported rare SNP (rs61746214).
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2011-08-08
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