Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.R205Q
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CANX

NM_001746.4:p.R205Q

Associated Papers

Comparative analysis and characterization of mutated thyroid peroxidases with disturbance expressed on the cell surface.

Umeki K et al.

Molecular and Cellular Endocrinology, 2004

A Novel Missense Mutation in the Thyroid Peroxidase Gene, R175Q, Resulting in Insufficient Cell Surface Enzyme in Two Siblings.

Kotani T et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2004

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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."