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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TH

Variant:p.E20delFs

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TH

NM_000360.4:p.E20delFs

hg38:chr11:2171726 GCT>G

Associated Papers

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

Manti F et al.

Neurology. Genetics, 2026

41450729 (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."