Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.K296Q
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RHO

NM_000539.3:p.K296Q

Associated Papers

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Trastulli G et al.

Genes, 2024

39336749 (PubMed )
Supplement: genes-15-01158-s001.zip › genes-3162794-supplementary.xlsx › Table_S1

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_S2_ClinVar.xlsx › ClinVar_2022-04-19

Cellular Changes in Retinas From Patients With BEST1 Mutations.

Bonilha VL et al.

Frontiers in Cell and Developmental Biology, 2020

Role of the retinal hydrogen bond network in rhodopsin Schiff base stability and hydrolysis.

Janz JM et al.

The Journal of Biological Chemistry, 2004

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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."