Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.E454insFs
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BAP1

NM_004656.4:p.E454insFs

Associated Papers

First Report of BAP1-Associated Polyposis.

Jacobson AL et al.

American Journal of Medical Genetics. Part A, 2025

Exceptional Response to Temsirolimus in a Metastatic Clear Cell Renal Cell Carcinoma With an Early Novel MTOR-Activating Mutation.

Rodríguez-Moreno JF et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2017

Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers.

Chan-On W et al.

Nature Genetics, 2013

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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."