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Identification of mutations in PATL2. The patients in family1 (a) and family2 (b) carried 2 different missense mutations: c.1528C>T (p.P510T) and c.1376C>A (p.S459Y), respectively. Black circles represent patients. c Location of 2 novel homozygous missense mutations in the PATL2 gene and protein. We predicted the domain of the PATL2 protein using SMART software. d The conservation of P510 and S459 among multiple species
