Varaico: Literature-Extracted Genetic Variants

Gene:TBL1XR1
Variant:p.S326N
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TBL1XR1

NM_024665.7:p.S326N

Associated Papers

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

Ren M et al.

Gene, 2023

A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.

Tamma PL et al.

American Journal of Medical Genetics. Part A, 2023

Chronological genome and single-cell transcriptome integration characterizes the evolutionary process of adult T cell leukemia-lymphoma.

Yamagishi M et al.

Nature Communications, 2021

34376672 (PubMed )
Supplement: 41467_2021_25101_MOESM6_ESM.xlsx › Sup_Data_4
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