. . . . . . . "[9 new TCIRG1 mutations were found in recessive osteopetrosis pts/of the pts had c.1674-1G > A (aberrant splicing: r.1674 _ 1884del) or c.2005C > T (protein variation: p.Arg669X)/were splicing regulatory sequence substitutions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:17:55+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .