Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.R57fs
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BAP1

NM_004656.4:p.R57fs

Associated Papers

Molecular Analysis of Biliary Tract Cancers with the Custom 3' RACE-Based NGS Panel.

Mitiushkina NV et al.

Diagnostics (basel, Switzerland), 2023

37891989 (PubMed )
Supplement: diagnostics-13-03168-s001.zip › diagnostics-2617903-supplementary.pdf

Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome.

Abbassi YA et al.

Familial Cancer, 2023

Diagnosis of the origin of an epibulbar melanocytic tumor with molecular genomics.

Gonzalez-H Leon A et al.

Ophthalmic Genetics, 2022

Molecular alterations associated with metastases of solid pseudopapillary neoplasms of the pancreas.

Amato E et al.

The Journal of Pathology, 2019

30306561 (PubMed )
Supplement: PATH-247-123-s012.xlsx › Supplementary_Table_4
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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."