Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.K1207delFs
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BCOR

NM_001123385.2:p.K1207delFs

Associated Papers

A novel frameshift variant in BCOR causes congenital nuclear cataract.

Berry V et al.

Ophthalmic Genetics, 2024

Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Gutierrez-Rodrigues F et al.

Haematologica, 2022

34587721 (PubMed )
Supplement: 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf

Clinical significance of chromatin-spliceosome acute myeloid leukemia: a report from the Northern Italy Leukemia Group (NILG) randomized trial 02/06.

Caprioli C et al.

Haematologica, 2021

32855275 (PubMed )
Supplement: 2020_252825_CAPRIOLI_SUPPL.pdf

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Hilton E et al.

European Journal of Human Genetics : Ejhg, 2009

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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."