Varaico: Literature-Extracted Genetic Variants

Gene:TBL1XR1
Variant:p.P444R
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TBL1XR1

NM_024665.7:p.P444R

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

Nuclear receptor corepressors in intellectual disability and autism.

Kong Y et al.

Molecular Psychiatry, 2020

Nuclear Receptor Coactivators (NCOAs) and Corepressors (NCORs) in the Brain.

Sun Z et al.

Endocrinology, 2020

Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.

Kruusvee V et al.

Proceedings of the National Academy of Sciences of the United States of America, 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

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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."