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Published in 2019 at "JAMA Ophthalmology"
DOI: 10.1001/jamaophthalmol.2019.4959
Abstract: Key Points Question Is there evidence that the Pro50Leu substitution in guanylate cyclase activating protein-1 (encoded by the gene GUCA1A) is associated with a dominant retinal dystrophy? Findings In this cross-sectional study reevaluating the original…
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Keywords:
retinal dystrophy;
pro50leu substitution;
dominant retinal;
substitution guanylate ... See more keywords