Varaico: Literature-Extracted Genetic Variants

Gene:TBL1XR1
Variant:p.S447N
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TBL1XR1

NM_024665.7:p.S447N

Associated Papers

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

Wei L et al.

Bmc Medical Genomics, 2025

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 molecular hallmarks of primary and secondary vitreoretinal lymphoma.

Bonzheim I et al.

Blood Advances, 2022

34448823 (PubMed )
Supplement: advancesADV2021004212-suppl1.pdf
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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."