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Fig. 1
PARD3 variant found in a pedigree with NSCP. (A) The pedigree with nonsyndromic cleft palate only. Unfilled and shaded shapes denote healthy and affected individuals, respectively. Squares represent males, and circles represent females. The arrow indicates the proband. (B) Clinical image of two affected individuals (III3 and III6) from the pedigree, which show the cleft of the soft palate. (C) The heterozygous single nucleotide insertion variant in PARD3 was verified by Sanger sequencing. The variant was named according to GenBank: NM_019619.4, NP_062565.2. (D) Protein sequence alignment of PARD3 orthologs was performed by Multiple Sequence Alignment (MUSCLE). The p. E338Gfs*26 variant and the associated new residue sequence are shown above and indicated in red. (E) A schematic diagram of functional domains in the PARD3 (GenBank: NP_062565.2) protein. N= amino terminus; C= carboxy terminus
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Full text @ J. Cell. Mol. Med.