Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.W289*
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BCOR

NM_001123385.2:p.W289*

Associated Papers

Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells.

Rouhani FJ et al.

Nature Genetics, 2022

35953586 (PubMed )
Supplement: 41588_2022_1147_MOESM4_ESM.xlsx › Table_S10_insignia_coding_muts

A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.

Hu Q et al.

Bmc Pediatrics, 2022

The mutation of BCOR is highly recurrent and oncogenic in mature T-cell lymphoma.

Kang JH et al.

Bmc Cancer, 2021

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.

Ragge N et al.

Human Genetics, 2019

Genetic alterations of JAK/STAT cascade and histone modification in extranodal NK/T-cell lymphoma nasal type.

Lee S et al.

Oncotarget, 2015

25980440 (PubMed )
Supplement: oncotarget-06-17764-s002.xlsx › Table_S3
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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."