Varaico: Literature-Extracted Genetic Variants

Gene:TBL1XR1
Variant:p.G267insFs
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TBL1XR1

NM_024665.7:p.G267insFs

Associated Papers

Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.

Ren M et al.

Gene, 2023

Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.

Quan Y et al.

Journal of Molecular Neuroscience : Mn, 2020

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

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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."