Jeremy Schwartzentruber
European Bioinformatics Institute
86 papers found
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An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase
Download from academic.oup.comTwo cases of congenital myasthenic syndrome with vocal cord paralysis
Download from www.ncbi.nlm.nih.govBiallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype
Download from cancerdiscovery.aacrjournals.orgDisrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome
Download from dx.doi.orgFORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
Download from www.ncbi.nlm.nih.govCTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
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