. . . . . . . "[Two compound heterozygotes for the GPIbalpha gene (a maternal T insertion at position 1418 causing a translational frameshift and premature polypeptide termination, and a paternal T715A substitution changing Cys209 to Ser) had Bernard-Soulier syndrome.]. 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 . "2017-10-17T13:13:03+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .