Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.V636E
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OCRL

NM_000276.4:p.V636E

Associated Papers

Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.

Perdomo-Ramirez A et al.

Intractable & Rare Diseases Research, 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."