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Novel STAMBP mutation and additional findings in an Arabic ..:

Faqeih, Eissa A. ; Bastaki, Laila ; Rosti, Rasim Ozgur...
American Journal of Medical Genetics Part A.  167 (2015)  4 - p. 805-809 , 2015
Link: https://doi.org/10.1002/ajmg.a.36782