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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TFE3

Variant:p.H190R

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TFE3

NM_006521.6:p.H190R

hg38:chrX:49038408 T>C

Associated Papers

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (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."