Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.P698fs
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BCOR

NM_001123385.2:p.P698fs

Associated Papers

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in BCOR gene.

Sauvestre C et al.

Cardiology in the Young, 2024

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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."