Whole Exome Sequencing of an X-linked Thrombocytopenia Patient with Normal Sized Platelets
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Wiskott-Aldrich Syndrome (WAS) is a rare X-linked recessive Primary Immunodeficiency (PID) caused by mutations in WAS gene which encodes a protein known as WASp. WASp plays important roles in cytoskeletal functions that compromise multiple aspects of normal ce... ...
