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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D2B

Variant:p.V110_K120del0

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TBC1D2B

NM_144572.2:p.V110_K120del0

hg38:chr15:78077289 CCACCTTGAGCACCGTGACGGCTCCCGCGCTGTG>C

Associated Papers

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.

Harms FL et al.

European Journal of Human Genetics : Ejhg, 2024

38374468 (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."