Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.Q823_V824Splc
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OCRL

NM_000276.4:p.Q823_V824Splc

Associated Papers

Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations.

Liu H et al.

Journal of Neurodevelopmental Disorders, 2020

Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells.

Barnes J et al.

Molecular Autism, 2018

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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."