[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.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE