Varaico: Literature-Extracted Genetic Variants

Gene:GPHN
Variant:p.I240L
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GPHN

NM_020806.5:p.I240L

Associated Papers

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.

Rees MI et al.

The Journal of Biological Chemistry, 2003

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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."