[analysis of a mutant G (salpha) harboring AVDT amino acid repeats within its GDP/GTP binding site, which was identified in unique patients with pseudohypoparathyroidism type Ia accompanied by neonatal diarrhea ]. 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