Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.E630*
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BCOR

NM_001123385.2:p.E630*

Associated Papers

Germline ATM mutation and somatic PIK3CA and BCOR mutations found in an infant with aggressive orbital embryonal rhabdomyosarcoma.

Jaru-Ampornpan P et al.

American Journal of Ophthalmology Case Reports, 2021

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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."