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Human Phenotype Ontology
WebPSEN1 mutations apparently disrupt Ca ++ regulation in the endoplasmic reticulum and result in impaired mitochondrial ... PS-2; OMIM 600759) Mutations in presenilin-1 (PS-1) … Webgene with protein product. Location: 14q24.2 briney breezes motel
Neurodegeneration with Brain Iron Accumulation Disorders …
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