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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation

Fig. 3

Schematic of the TAp63‐alpha protein (NM_003722.4) and all reported variants. The rectangular box represents the TAp63‐alpha protein with the N‐terminus on the left and the C‐terminus on the right. Known functional domains include the transactivation, DNA binding, oligomerization, sterile alpha motif, and transactivation inhibition domains. Blue font, null variants; black font, missense variants; red font, the variant identified in our patients

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