Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.V104D
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RHO

NM_000539.3:p.V104D

Associated Papers

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

Ezquerra-Inchausti M et al.

Scientific Reports, 2018

30337596 (PubMed )
Supplement: 41598_2018_33810_MOESM1_ESM.pdf

Effect of inactivating mutations on phosphorylation and internalization of the human VPAC2 receptor.

Langer I et al.

Journal of Molecular Endocrinology, 2005

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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."