Varaico: Literature-Extracted Genetic Variants

Gene:TBL1XR1
Variant:p.Y446S
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TBL1XR1

NM_024665.7:p.Y446S

Associated Papers

Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma.

Bai B et al.

Blood Cancer Journal, 2024

39191762 (PubMed )
Supplement: 41408_2024_1124_MOESM2_ESM.xlsx › Table_S3

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

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL6

Rare variant of TBL1XR1 in West syndrome: A case report.

Shen Y et al.

Molecular Genetics & Genomic Medicine, 2022

Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Guan T et al.

Frontiers in Oncology, 2022

36465410 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_table_4

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

TBL1XR1 Mutations Drive Extranodal Lymphoma by Inducing a Pro-tumorigenic Memory Fate.

Venturutti L et al.

Cell, 2020

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

Armour CM et al.

American Journal of Medical Genetics. Part A, 2016

Erratum: A specific mutation in TBL1XR1 causes Pierpont syndrome.

Unknown Author

Journal of Medical Genetics, 2016

A specific mutation in TBL1XR1 causes Pierpont syndrome.

Heinen CA et al.

Journal of Medical 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."