Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D1
Variant:p.A220delFs
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TBC1D1

NM_001396959.1:p.A220delFs

Associated Papers

Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration.

Correia-Costa GR et al.

Clinical Genetics, 2022

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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."