Varaico: Literature-Extracted Genetic Variants

Gene:CDH17
Variant:p.N54K
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CDH17

NM_004063.4:p.N54K

Associated Papers

Spotlight on the transglutaminase 2 gene: a focus on genomic and transcriptional aspects.

Bianchi N et al.

The Biochemical Journal, 2018

Disturbances of Ligand Potency and Enhanced Degradation of the Human Glycine Receptor at Affected Positions G160 and T162 Originally Identified in Patients Suffering from Hyperekplexia.

Atak S et al.

Frontiers in Molecular Neuroscience, 2015

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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."