Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.R318S
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OCRL

NM_000276.4:p.R318S

Associated Papers

Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.

Lee JJ et al.

Biomolecules, 2023

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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."