Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.H524Q
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OCRL

NM_000276.4:p.H524Q

Associated Papers

Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.

Du R et al.

Pediatric Nephrology (berlin, Germany), 2024

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

Suarez-Artiles L et al.

Genes, 2018

29300302 (PubMed )
Supplement: genes-09-00015-s001.pdf
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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."