Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.M137I
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GCH1

NM_000161.3:p.M137I

Associated Papers

Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.

Dale RC et al.

Developmental Medicine and Child Neurology, 2010

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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."