Varaico: Literature-Extracted Genetic Variants

Gene:TBL1XR1
Variant:p.S447R
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TBL1XR1

NM_024665.7:p.S447R

Associated Papers

Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports.

Wei L et al.

Bmc Medical Genomics, 2025

Testicular large B-cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL.

Rivas-Delgado A et al.

Hemasphere, 2024

39380845 (PubMed )
Supplement: HEM3-8-e70024-s001.xlsx › ST7

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.

Nagy A et al.

Orphanet Journal of Rare Diseases, 2024

Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.

Frauenfeld L et al.

Blood Advances, 2022

34654055 (PubMed )
Supplement: advancesADV2021006034-suppl1.pdf

The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.

Magistri M et al.

Cancer Research Communications, 2021

35528192 (PubMed )
Supplement: crc-21-0022-s03.xlsx › HCandMUTECT_variants_mutrate10g

The genetic landscape of dural marginal zone lymphomas.

Ganapathi KA et al.

Oncotarget, 2016

27248180 (PubMed )
Supplement: oncotarget-07-43052-s003.xlsx › Supp_Table_3
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