[We have identified a new high oxygen affinity hemoglobin variant in members of a Portuguese family; it is characterized by an Asp----Glu replacement at codon 99 of the beta chain which is in the alpha 1 beta 2 interface.]. 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