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. 2015 Nov 2;5:16022. doi: 10.1038/srep16022

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(A) Sanger sequencing confirmed segregation of the NAA10 variant with the phenotype and the de novo status of the variant in the carrier mother (II:2). *The maternal grandfather’s DNA was not available for analysis. However, sequencing of his unaffected daughters showed that they do not carry the NAA10 variant on their paternal X chromosome indicating that the grandfather was hemizygous for the reference allele. (B) The NAA10 NM_001256120.1 c.128A > C p.(Tyr43Ser) was validated by Sanger sequence analysis. The inverted triangle indicates the position of the mutated A > C base on the forward strand which results in the substitution of Tyr (Y) with Ser (S) at residue 43.