Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa
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DOI: 10.1080/13816810.2017.1393827
Abstract: Retinitis pigmentosa (RP) refers to a group of inherited disorders that affect the retina’s ability to respond to light, leading to progressive visual loss. One of the genes found to be responsible for RP is… read more here.
Keywords: compound heterozygous; heterozygous variants; variants ift140; retinitis pigmentosa ... See more keywords