Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.H100L
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RHO

NM_000539.3:p.H100L

Associated Papers

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

Zhen F et al.

Frontiers in Neuroscience, 2023

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

McKee AG et al.

The Journal of Biological Chemistry, 2021

34756884 (PubMed )
Supplement: mmc1.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

Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing.

Zhou L et al.

Experimental Eye Research, 2018

Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa.

Kim KJ et al.

Molecular Vision, 2011

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."