Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.I1519L
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CEP290

NM_025114.4:p.I1519L

Associated Papers

Prevalence of genetic causes of obesity in clinical practice.

Tamaroff J et al.

Obesity Science & Practice, 2023

Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.

Nigro E et al.

Genes, 2023

37372416 (PubMed )
Supplement: genes-14-01236-s001.zip › Supplementary_Tables_S2-S5.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."