Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.V89I
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BCOR

NM_001123385.2:p.V89I

Associated Papers

Oculo-facio-cardio-dental (OFCD) syndrome: a case report.

Nguyen TT et al.

Journal of Medical Case Reports, 2024

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

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing.

Zhuang J et al.

Frontiers in Genetics, 2022

New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report.

Kato J et al.

Medicine, 2018

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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."