Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.M1I
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C2

NM_000063.6:p.M1I

Associated Papers

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

Kalatzis V et al.

Human Molecular Genetics, 2004

MEF-2 and Oct-1 bind to two homologous promoter sequence elements and participate in the expression of a skeletal muscle-specific gene.

Lakich MM et al.

The Journal of Biological Chemistry, 1998

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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."