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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D7

Variant:p.Q6_R7delFs

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TBC1D7

NM_016495.6:p.Q6_R7delFs

hg38:chr6:13326877 TTCTC>T

Associated Papers

TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.

Alfaiz AA et al.

Human Mutation, 2014

24515783 (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."