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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TNK1

Variant:p.R507C

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TNK1

NM_003985.6:p.R507C

hg38:chr17:7388447 C>T

Associated Papers

Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy.

Langhammer F et al.

Human Molecular Genetics, 2025

39849855 (PubMed )

Supplement: rhobtb2_supplementary_information_clean_ddae183.docx

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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."