Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.C223F
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CTNS

NM_004937.3:p.C223F

Associated Papers

Automated splicing mutation analysis by information theory.

Nalla VK et al.

Human Mutation, 2005

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.

Kalatzis V et al.

Human Mutation, 2002

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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."