Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.V340_V347del0
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CTNS

NM_004937.3:p.V340_V347del0

Associated Papers

Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations.

Sadeghipour F et al.

Human Genome Variation, 2017

Characterization of CTNS mutations in Arab patients with cystinosis.

Aldahmesh MA et al.

Ophthalmic Genetics, 2009

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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."