Varaico: Literature-Extracted Genetic Variants

Gene:RAB28
Variant:p.T26N
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RAB28

NM_001017979.3:p.T26N

Associated Papers

Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations.

Clark AM et al.

Jci Insight, 2024

Gene therapy for RAB28: What can we learn from zebrafish?

Moran AL et al.

Vision Research, 2023

Dawn and dusk peaks of outer segment phagocytosis, and visual cycle function require Rab28.

Moran AL et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2022

Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.

Iarossi G et al.

International Journal of Molecular Sciences, 2020

Ciliary Rab28 and the BBSome negatively regulate extracellular vesicle shedding.

Akella JS et al.

Elife, 2020

Genetic Deletion of Zebrafish Rab28 Causes Defective Outer Segment Shedding, but Not Retinal Degeneration.

Carter SP et al.

Frontiers in Cell and Developmental Biology, 2020

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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."