Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.S489Splc
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OCRL

NM_000276.4:p.S489Splc

Associated Papers

Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.

Gcobo T et al.

Genes, 2025

41300747 (PubMed )
Supplement: genes-16-01295-s001.zip › genes-3843318-supplementary.pdf

Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?

Gianesello L et al.

Genes, 2021

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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."