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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:THOC6

Variant:p.L270_I271Splc

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THOC6

NM_024339.5:p.L270_I271Splc

hg38:chr16:3027281 G>A

Associated Papers

Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.

Guo F et al.

Human Mutation, 2024

40225944 (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."