Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 28957
Gene Symbol: MRPS28
MRPS28
0.010 GeneticVariation phenotype BEFREE Here, we report the identification of disease-causing variants in the MRPS28 gene, encoding the small mitoribosomal subunit (mtSSU) protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and developmental delay. 30566640 2019