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Browse result for Platelet-type bleeding disorder

※ introduction

    A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.

Reference
DiseaseOntology: Platelet-type bleeding disorder



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD04125P1281487
ACTN1
Alpha-actinin-1
Homo sapiens