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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease thrombocytopenia
Comorbidity C0039730|thalassemia
Sentences 2
PubMedID- 25421114 X-linked thrombocytopenia with thalassemia (xltt) is caused by the mutation 216r > q in exon 4 of the gata1 gene.
PubMedID- 22993897 [x-linked thrombocytopenia with thalassemia in two families in sweden.

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