Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.S830delFs
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BCOR

NM_001123385.2:p.S830delFs

Associated Papers

Genomic landscape of paired primary and peritoneal metastatic lesions in gastric cancer highlights evolutionary dynamics and mutational drivers.

Li S et al.

Journal of Advanced Research, 2025

40436141 (PubMed )
Supplement: 1-s2.0-S2090123225003625-mmc2.xlsx › Table_S3

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_primary_tumor

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Homan CC et al.

Blood Advances, 2023

Clinical Impact of Prospective Whole Genome Sequencing in Sarcoma Patients.

Schipper LJ et al.

Cancers, 2022

35053600 (PubMed )
Supplement: cancers-14-00436-s001.zip › Supplementary_data_-_Detailed_genomic_information_per_sample.xlsx › SNVs__MNVs__indels

Genetic control of tumor development in malformation syndromes.

Postema FAM et al.

American Journal of Medical Genetics. Part A, 2021

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.

Alankarage D et al.

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

Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Kim B et al.

Plos One, 2019

30840646 (PubMed )
Supplement: pone.0212228.s004.pdf

Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.

Feberwee HE et al.

Clinical Genetics, 2014

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.

Horn D et al.

European Journal of Human Genetics : Ejhg, 2005

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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."