Varaico: Literature-Extracted Genetic Variants

Gene:VPS13B
Variant:p.C1117fs
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VPS13B

NM_152564.5:p.C1117fs

Associated Papers

The Finnish genetic heritage in 2022 - from diagnosis to translational research.

Uusimaa J et al.

Disease Models & Mechanisms, 2022

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

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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."