Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.Q510*
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OCRL

NM_000276.4:p.Q510*

Associated Papers

Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.

Zhang Y et al.

Bmc Medical Genomics, 2021

Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome.

Gao Y et al.

World Journal of Pediatrics : Wjp, 2016

A novel pathogenic DNA variation in the OCRL1 gene in Lowe syndrome.

Şimşek E et al.

Journal of Clinical Research in Pediatric Endocrinology, 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."