Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.F871delFs
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BCOR

NM_001123385.2:p.F871delFs

Associated Papers

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

Min Soe K et al.

Frontiers in Physiology, 2022

Expression of Normal or Mutated X-Linked BCOR Transcripts in OFCD iPSCs.

El Ayachi I et al.

Journal of Dental Research, 2020

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 regulates mesenchymal stem cell function by epigenetic mechanisms.

Fan Z et al.

Nature Cell Biology, 2009

Case reports of oculofaciocardiodental syndrome with unusual dental findings.

Oberoi S et al.

American Journal of Medical Genetics. Part A, 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."