Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.M1T
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CTNS

NM_004937.3:p.M1T

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

Analysis of the CTNS gene in 32 cystinosis patients from Spain.

Macías-Vidal J et al.

Clinical Genetics, 2009

The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif.

Cherqui S et al.

The Journal of Biological Chemistry, 2001

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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."