Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.C679W
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OCRL

NM_000276.4:p.C679W

Associated Papers

The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development.

Chen C et al.

Journal of Developmental Biology, 2022

Recognition of the F&H motif by the Lowe syndrome protein OCRL.

Pirruccello M et al.

Nature Structural & Molecular Biology, 2011

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.

Hichri H et al.

Human Mutation, 2011

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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."