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Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration
UploadScrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant
Download from www.nature.comUsher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Download from link.springer.comLong-read technologies identify a hidden inverted duplication in a family with choroideremia
UploadBenchmarking deep learning splice prediction tools using functional splice assays
Download from onlinelibrary.wiley.comBBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
UploadIdentification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4
Download from onlinelibrary.wiley.comMutations inCEP120cause Joubert syndrome as well as complex ciliopathy phenotypes
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