Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.S259*
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BCOR

NM_001123385.2:p.S259*

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

X-linked BCOR-related syndrome in two male siblings.

Archer NE et al.

Clinical Dysmorphology, 2021

Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome.

Morgan TM et al.

Case Reports in Genetics, 2019

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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."