227650.4

Country

Lebanon

HPO Terms

Thrombocytopenia; Splenomegaly; Chromosomal breakage induced by crosslinking agents; Megakaryocytopenia; History of bone marrow transplant
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000135.4:c.2602-2A>G2
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