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Mapping and conservation analysis of the identified variants. (A) Mapping of eight PTK7 variants revealed that p.L17F, p.S118F, p.H155Pfs*16 and p.K465R are located in the extracellular region of PTK7 protein. p.D764N and p.R795H are located in the intracellular pseudokinase domain. (B) The conservation of variants in human and other vertebrate species.
