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Article

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

International journal of molecular sciences - 17 Jun 2022

Jackson Daniel J, Dubis Adam M, Moosajee Mariya

Abstract excerpt

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 treating inherited retinal degenerations, however relevant metrics of progression and sensitive clinical trial endpoints are needed to assess therapeutic...

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Identifiers

PMID: 35743231
DOI: 10.3390/ijms23126785
PMCID: PMC9245601

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