Varaico: Literature-Extracted Genetic Variants

Gene:VPS13B
Variant:p.V578delFs
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VPS13B

NM_152564.5:p.V578delFs

Associated Papers

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.

Gabrielle PH et al.

Scientific Reports, 2021

34385517 (PubMed )
Supplement: 41598_2021_95743_MOESM2_ESM.xlsx › Supplementary_Table_S1

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

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

El Chehadeh-Djebbar S et al.

European Journal of Human Genetics : Ejhg, 2013

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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."