RPL3, ribosomal protein L3, 6122

N. diseases: 26; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.010 GeneticVariation group BEFREE The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement. 28218388 2017