Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.S1143insFs
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BCOR

NM_001123385.2:p.S1143insFs

Associated Papers

Identification of nuclear localization signals within the human BCOR protein.

Surapornsawasd T et al.

Febs Letters, 2015

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

Feberwee HE et al.

Clinical Genetics, 2014

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."