Varaico: Literature-Extracted Genetic Variants

Gene:GPHN
Variant:p.G18R
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GPHN

NM_020806.5:p.G18R

Associated Papers

A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency.

Reiss J et al.

American Journal of Human Genetics, 2001

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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."