Varaico: Literature-Extracted Genetic Variants

Gene:FBLN7
Variant:p.G54S
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FBLN7

NM_153214.3:p.G54S

Associated Papers

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."