Varaico: Literature-Extracted Genetic Variants

Gene:VPS13B
Variant:p.E409*
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VPS13B

NM_152564.5:p.E409*

Associated Papers

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.

Lhussiez V et al.

Investigative Ophthalmology & Visual Science, 2020

32915983 (PubMed )
Supplement: iovs-61-11-18_s001.pdf

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

Al-Gazali L et al.

Human Mutation, 2010

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

Seifert W et al.

Human Mutation, 2009

Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.

Taban M et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2007

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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."