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ENSevere Congenital Neutropenia 1
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Severe Congenital Neutropenia 1 is related to cyclic neutropenia and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Severe Congenital Neutropenia 1 is ELANE (Elastase, Neutrophil Expressed), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Complex I biogenesis. Affiliated tissues include neutrophil.
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