NOP14, NOP14 nucleolar protein, 8602

N. diseases: 18; N. variants: 2
Disease: Miscarriage ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552766
Disease: Miscarriage
Miscarriage 		0.010 GeneticVariation disease BEFREE We performed exome sequencing using DNA from a miscarriage tissue and identified a homozygous NOP14 missense variant (c.[136C>G];[136C>G]) in both families. 29440706 2018