Varaico: Literature-Extracted Genetic Variants

Gene:CBY1
Variant:p.T63_G64delFs
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CBY1

NM_015373.4:p.T63_G64delFs

Associated Papers

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.

Epting D et al.

Human Mutation, 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."