Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.T7fs
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CTNS

NM_004937.3:p.T7fs

Associated Papers

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Kiewiet G et al.

International Journal of Neonatal Screening, 2024

More than tubular dysfunction: cystinosis and kidney outcomes.

Atmis B et al.

Journal of Nephrology, 2022

Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.

Önenli-Mungan N et al.

The Turkish Journal of Pediatrics, 2016

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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."