Varaico: Literature-Extracted Genetic Variants

Gene:WDFY2
Variant:p.G22Fs
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WDFY2

NM_052950.4:p.G22Fs

Associated Papers

A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease.

von Mering M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2008

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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."