Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.L183P
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RHO

NM_000539.3:p.L183P

Associated Papers

Geographic and Phenotypic Variability in RHO-Associated Retinopathy: Evidence From a Chinese Cohort and Global Literature.

Hang C et al.

American Journal of Ophthalmology, 2025

CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.

Kaukonen M et al.

Genes, 2022

35893064 (PubMed )
Supplement: genes-13-01327-s001.zip › Table_S1_LOVD.xlsx › LOVD_2022-04-19

Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.

Verdina T et al.

Molecular Vision, 2021

In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.

McCorvie TJ et al.

Gene, 2013

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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."