. . . . . . . . . . . . "[A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2013-07-24"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2014-10-02T12:32:02+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .