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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TH

Variant:p.G383W

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TH

NM_000360.4:p.G383W

hg38:chr11:2165721 C>A

Associated Papers

Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency.

Champagne M et al.

Jimd Reports, 2022

36101825 (PubMed )

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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."