Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.V432delFs
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BCOR

NM_001123385.2:p.V432delFs

Associated Papers

Oculo-facio-cardio-dental (OFCD) syndrome: a case report.

Nguyen TT et al.

Journal of Medical Case Reports, 2024

A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome.

Zhang J et al.

Science China. Life Sciences, 2019

Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma.

Seki M et al.

Nature Communications, 2015

26138366 (PubMed )
Supplement: ncomms8557-s3.xlsx › Sheet1
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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."