Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.V344Fs
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CTNS

NM_004937.3:p.V344Fs

Associated Papers

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

Lysosomal Storage Disorders in Egyptian Children.

Elmonem MA et al.

Indian Journal of Pediatrics, 2016

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."