Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.L314_F317del4
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CTNS

NM_004937.3:p.L314_F317del4

Associated Papers

Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.

Feng Y et al.

Orphanet Journal of Rare Diseases, 2024

39363361 (PubMed )
Supplement: 13023_2024_3379_MOESM1_ESM.pdf

Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation.

Quinaux T et al.

Cells, 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."