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UnknownX-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
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S-EPMC3943703 | biostudies-literature
UnknownCAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.
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S-EPMC10882881 | biostudies-literature
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