Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.G339G
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CTNS

NM_004937.3:p.G339G

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

The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran.

Shahkarami S et al.

Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 2013

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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."