Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.P526L
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OCRL

NM_000276.4:p.P526L

Associated Papers

New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.

Chen Y et al.

Molecular Genetics & Genomic Medicine, 2023

37248651 (PubMed )
Supplement: MGG3-11-e2163-s001.xls › Table_S1

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.

Suarez-Artiles L et al.

Genes, 2018

Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases.

Hyvola N et al.

The Embo Journal, 2006

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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."