[We found three novel polymorphisms in the beta ig-h3 gene in patients with gelatinous drop-like corneal dystrophy: (1) a substitution from CTC to CTT at codon 472 that did not alter an amino acid; (2) a substitution from GCG (Ala) to GTG (Val) at codon 480; and (3) a substitution from C to T in intron 10, three nucleotides upstream from the acceptor site of exon 11.]. 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