[R54C is the second reported recessive CRYAA mutation associated with congenital cataract and the first with described morphology.punctuate lenticular opacities in carriers and congenital total white cataract with microcornea in homozygotes.]. 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