Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.L1514L
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BCOR

NM_001123383.1:p.L1514L

Associated Papers

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

A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome.

Zhang J et al.

Science China. Life Sciences, 2019

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

Feberwee HE et al.

Clinical Genetics, 2014

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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."