Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.E304Q
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GPR50

NM_004224.3:p.E304Q

Associated Papers

Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling.

Donato L et al.

International Journal of Molecular Sciences, 2021

Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutions.

Jordan SA et al.

Human Mutation, 1992

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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."