[Current knowledge of the molecular and cellular basis of complement C3 deficiency indicates that C3 deficiency is caused by numerous molecular genetic mutations that include splicing defects, a partial gene deletion, and a critical amino acid substitution.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE