Articles with "longitudinal phenotypic" as a keyword



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The Natural History of CNGB1-Related Retinopathy: A Longitudinal Phenotypic Analysis

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23126785

Abstract: Cyclic nucleotide-gated channel β 1 (CNGB1) encodes a subunit of the rod cyclic nucleotide-gated channel. Pathogenic variants in CNGB1 are responsible for 4% of autosomal recessive retinitis pigmentosa (RP). Several treatment strategies show promise for… read more here.

Keywords: natural history; cngb1 related; longitudinal phenotypic; history cngb1 ... See more keywords