The association between VPS45 (Vacuolar Protein Sorting 45 Homolog) and Severe Congenital Neutropenia is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.
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Clinical variants1
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At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.