Varaico: Literature-Extracted Genetic Variants

Gene:MYB
Variant:p.N307I
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MYB

NM_001130173.2:p.N307I

Associated Papers

The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.

Martí-Massó JF et al.

Journal of Molecular Medicine (berlin, Germany), 2013

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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."