Varaico: Literature-Extracted Genetic Variants

Gene:RAB28
Variant:p.G58Splc
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RAB28

NM_001017979.3:p.G58Splc

Associated Papers

Detailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophy.

Rao NT et al.

Ophthalmic Genetics, 2024

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

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.

Jespersgaard C et al.

Investigative Ophthalmology & Visual Science, 2020

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.

Riveiro-Álvarez R et al.

Jama Ophthalmology, 2015

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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."