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Showing 1 to 1 of 1 for “"SKIC2"”.
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Genetic Analysis of Rna Exosome Complex Cofactors
… in pontocerebellar hypoplasia patients (PCH), in SKIC2 and SKIC3 (the orthologs of Ski2 and Ski3) in tricho-hepato-enteric syndrome (THES) patients, and in Rrp6 in a patient with primary ovarian insufficiency (POI). I hypothesize that these mutations in the RNA exosome complex or cofactors cause …