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Identification of Rare Variations in AP4E1
(A) Bioinformatic-analysis pipeline applied to whole-exome sequence data from chromosomal region 15q.
(B) Co-segregation of the chromosome containing the c.1549G>A and c.2401G>A variations of AP4E1 in Cameroonian family CAMST01, sub-pedigree E. Dideoxy sequencing traces of representative heterozygous c.1549G>A (p.Val517Ile) and c.2401G>A (p.Glu801Lys) variations are shown.
