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FilenameFormatSizeDescription
ajmg_35447_sm_SuppTabI.doc43KTable I: Biallelic mutations identified in PCNT in this MOPD II patient series. a. All exon and exon/intron boundaries were sequenced. Absence of PCNT protein (Supplementary Figure 1) suggests the presence of a cryptic mutation.
ajmg_35447_sm_SuppFig.tif2891KFig. 1

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