Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.V287A
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CLCN5

NM_001127898.4:p.V287A

Associated Papers

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

34680992 (PubMed )
Supplement: genes-12-01597-s001.zip › genes-1384973-supplementary.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."