Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.E21Splc
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CTNS

NM_004937.3:p.E21Splc

Associated Papers

Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.

David D et al.

Nephron, 2019

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East.

Najafi M et al.

Frontiers in Pediatrics, 2019

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.

Soliman NA et al.

Jimd Reports, 2014

CTNS molecular genetics profile in a Persian nephropathic cystinosis population.

Ghazi F et al.

Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0

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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."