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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D31

Variant:p.F187_K188insFs

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TBC1D31

NM_145647.4:p.F187_K188insFs

hg38:chr8:123093632 T>TTTTA

Associated Papers

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

von Elsner L et al.

Brain : a Journal of Neurology, 2022

34694367 (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."