On the contrary, the germline heterozygous gain-of-function (GOF) SRC variant E527K is detected in patients from three unrelated families who present with thrombocytopenia and a paucity of alpha granules, clinical bleeding symptoms, and more variable phenotypes that include myelofibrosis, osteoporosis, facial dysmorphism, and behavior defects [42,43,44]. Here, SRC is linked to Thrombocytopenia.