Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.A797P
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OCRL

NM_000276.4:p.A797P

Associated Papers

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

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

Suarez-Artiles L et al.

Genes, 2018

Recognition of the F&H motif by the Lowe syndrome protein OCRL.

Pirruccello M et al.

Nature Structural & Molecular Biology, 2011

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

A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.

Erdmann KS et al.

Developmental Cell, 2007

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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."