Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.R663*
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OCRL

NM_000276.4:p.R663*

Associated Papers

Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.

Zhang L et al.

Genetics Research, 2022

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

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

Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.

Lasne D et al.

British Journal of Haematology, 2010

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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."