Article

Molecular Basis for Variations in the Sensitivity of Pathogenic Rhodopsin Variants to 9- <i>cis</i> -Retinal

2022-03-01

Abstract excerpt

Over 100 mutations in the rhodopsin gene have been linked to a spectrum of retinopathies that include retinitis pigmentosa and congenital stationary night blindness. Though most of these variants exhibit a loss of function, the molecular defects caused by these underlying mutations vary considerably. In this work, we utilize deep mutational scanning to quantitatively compare the plasma membrane expression of 123 k...

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Literature Corpus work: b6f82689-44f2-56f8-a4a0-a172d92dc58c
DOI: 10.1101/2022.03.01.482516

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