EXOSC8, exosome component 8, 11340

N. diseases: 22; N. variants: 3
Disease: nervous system disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 GeneticVariation group BEFREE Here we show that homozygous missense mutations in EXOSC8 cause progressive and lethal neurological disease in 22 infants from three independent pedigrees. 24989451 2014