Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.E284K
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TH

NM_199292.3:p.E284K

Associated Papers

Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes.

Zhang J et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024

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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."