Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.T289I
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RHO

NM_000539.3:p.T289I

Associated Papers

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

McKee AG et al.

The Journal of Biological Chemistry, 2021

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Lenassi E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf
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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."