Publications:

Heterogeneous clinicopathological findings and patient-reported outcomes in adults with MN1-altered CNS tumors: A case report and systematic literature review.

Frontiers In Oncology

Frederico, Stephen C SC; Vera, Elizabeth E; Abdullaev, Zied Z; Acquaye, Alvina A; Aldape, Kenneth K; Boris, Lisa L; Briceno, Nicole N; Choi, Anna A; Christ, Alexa A; Cooper, Diane D; Grajkowska, Ewa E; Kunst, Tricia T; Leeper, Heather E HE; Levine, Jason J; Lollo, Nicole N; Pratt, Drew D; Quezado, Martha M; Shah, Ritu R; Wall, Kathleen K; Gilbert, Mark R MR; Armstrong, Terri S TS; Penas-Prado, Marta M

Publication Date: 2023

Variant appearance in text: PARP1: Trp481Cys

PubMed Link: 36741001

Variant Present in the following documents:

• Main text
• fonc-13-1099618.pdf

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: PARP1: 1443G>C; W481C

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs201371549

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Osteosarcoma With Apparent Ewing Sarcoma Gene Rearrangement.

Journal Of Pediatric Hematology/Oncology

Mathias, Melissa D MD; Chou, Alexander J AJ; Meyers, Paul P; Shukla, Neerav N; Hameed, Meera M; Agaram, Narasimhan N; Wang, Lu L; Berger, Michael F MF; Walsh, Michael M; Kentsis, Alex A

Publication Date: 2016-07

Variant appearance in text: PARP1: W481C

PubMed Link: 27352193

Variant Present in the following documents:

• Main text

View BVdb publication page