Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.D270N
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OCRL

NM_000276.4:p.D270N

Associated Papers

Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease.

Zhou L et al.

Italian Journal of Pediatrics, 2025

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx
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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."