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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BAP1

Variant:p.E454fs

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BAP1

NM_004656.4:p.E454fs

hg38:chr3:52403785 CTC>N

Associated Papers

First Report of BAP1-Associated Polyposis.

Jacobson AL et al.

American Journal of Medical Genetics. Part A, 2025

40637005 (PubMed )

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

29118224 (PubMed )

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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."