Associated Papers
De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.
Nishi A et al.
Scientific Reports, 2017
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.
Laskowski RA et al.
Human Molecular Genetics, 2016
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
Saitsu H et al.
Journal of Human Genetics, 2014
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