Varaico: Literature-Extracted Genetic Variants

Gene:PRCD
Variant:p.V30M
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PRCD

NM_001077620.3:p.V30M

Associated Papers

Absence of PRCD Leads to Dysregulation in Lipid Homeostasis Resulting in Disorganization of Photoreceptor Outer Segment Structure.

Motipally SI et al.

Advances in Experimental Medicine and Biology, 2023

Palmitoylation of Progressive Rod-Cone Degeneration (PRCD) Regulates Protein Stability and Localization.

Murphy J et al.

The Journal of Biological Chemistry, 2016

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.

Zangerl B et al.

Genomics, 2006

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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."