Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A298D
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RHO

NM_000539.3:p.A298D

Associated Papers

Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.

Zhen F et al.

Frontiers in Neuroscience, 2023

Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.

Jung YH et al.

Frontiers in Genetics, 2023

Molecular basis for variations in the sensitivity of pathogenic rhodopsin variants to 9-cis-retinal.

Roushar FJ et al.

The Journal of Biological Chemistry, 2022

35850308 (PubMed )
Supplement: mmc1.pdf

Probing biophysical sequence constraints within the transmembrane domains of rhodopsin by deep mutational scanning.

Penn WD et al.

Science Advances, 2020

32181350 (PubMed )
Supplement: aay7505_SM.pdf

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.

Wan A et al.

Human Mutation, 2019

30977563 (PubMed )
Supplement: HUMU-40-1127-s002.xlsx › Table_S1

Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme.

Froebel BR et al.

Investigative Ophthalmology & Visual Science, 2017

28715844 (PubMed )
Supplement: iovs-58-05-25_s02.pdf

Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa.

Kim KJ et al.

Molecular Vision, 2011

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