Varaico: Literature-Extracted Genetic Variants

Gene:TBL1XR1
Variant:p.I397S
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TBL1XR1

NM_024665.7:p.I397S

Associated Papers

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

Slavotinek A et al.

European Journal of Medical Genetics, 2017

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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."