. . . . . . . "[Therefore, the total BPGM deficiency results from a genetic compound with one allele coding for an inactive enzyme (mutation BPGM Cr�teil I) and the other bearing a frameshift mutation (mutation BPGM Cr�teil II).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-01-25"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2017-10-17T13:10:58+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .