Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.K335R
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CTNS

NM_004937.3:p.K335R

Associated Papers

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."