Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
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DOI: 10.1016/j.exer.2019.107846
Abstract: The cone-rod homeobox (CRX) gene is specifically expressed in developing and mature photoreceptors and is relatively conserved, with limited polymorphisms in coding regions. Rare variants in CRX are usually considered causative for different forms of… read more here.
Keywords: crx variants; genotype phenotype; analysis; crx ... See more keywords