Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.E1096delFs
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BCOR

NM_001123385.2:p.E1096delFs

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

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.

Horn D et al.

European Journal of Human Genetics : Ejhg, 2005

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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."