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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D10C

Variant:p.R220Q

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TBC1D10C

NM_001369496.1:p.R220Q

hg38:chr11:67406837 G>A

Associated Papers

A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation.

Mori T et al.

Brain & Development, 2023

36966012 (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."