Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.G90R
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RHO

NM_000539.3:p.G90R

Associated Papers

Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness.

Chai Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38743626 (PubMed )
Supplement: pnas.2404763121.sapp.pdf

Systematic profiling of temperature- and retinal-sensitive rhodopsin variants by deep mutational scanning.

McKee AG et al.

The Journal of Biological Chemistry, 2021

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Sohocki MM et al.

Human Mutation, 2001

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