RAI1 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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2015-12-02
