Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.S231A
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PRPH2

NM_000322.5:p.S231A

Associated Papers

Structural and functional relationships between photoreceptor tetraspanins and other superfamily members.

Conley SM et al.

Cellular and Molecular Life Sciences : Cmls, 2012

Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.

Kedzierski W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2001

Transgenic analysis of rds/peripherin N-glycosylation: effect on dimerization, interaction with rom1, and rescue of the rds null phenotype.

Kedzierski W et al.

Journal of Neurochemistry, 1999

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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."