Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.K313_V314Splc
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OCRL

NM_000276.4:p.K313_V314Splc

Associated Papers

Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions.

Rossanti R et al.

Kidney International Reports, 2025

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.

Zaniew M et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2018

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.

van Rahden VA et al.

Human Molecular Genetics, 2012

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."