Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.S1223delFs
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BCOR

NM_001123385.2:p.S1223delFs

Associated Papers

Nonsense-mediated mRNA decay affects hyperactive root formation in oculo-facio-cardio-dental syndrome via up-frameshift protein 1.

Machida R et al.

Journal of Oral Biosciences, 2024

Molecular mechanism of hyperactive tooth root formation in oculo-facio-cardio-dental syndrome.

Min Soe K et al.

Frontiers in Physiology, 2022

Identification of nuclear localization signals within the human BCOR protein.

Surapornsawasd T et al.

Febs Letters, 2015

Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells.

Surapornsawasd T et al.

Journal of Human 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."