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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TH

Variant:p.L99delFs

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TH

NM_199292.3:p.L99delFs

hg38:chr11:2169758 CA>C

Associated Papers

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

Willemsen MA et al.

Brain : a Journal of Neurology, 2010

20430833 (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."