Publications:

Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor.

Scientific Reports

Jiang, Bingcheng B; Murray, Cameron C; Cole, Bonnie L BL; Glover, J N Mark JNM; Chan, Gordon K GK; Deschenes, Jean J; Mani, Rajam S RS; Subedi, Sudip S; Nerva, John D JD; Wang, Anthony C AC; Lockwood, Christina M CM; Mefford, Heather C HC; Leary, Sarah E S SES; Ojemann, Jeffery G JG; Weinfeld, Michael M; Ene, Chibawanye I CI

Publication Date: 2022-03-30

Variant appearance in text: RB1: P24P

PubMed Link: 35354845

Variant Present in the following documents:

• Main text
• 41598_2022_Article_9097.pdf

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Mutational Profile and Clonal Evolution of Relapsed/Refractory Diffuse Large B-Cell Lymphoma.

Frontiers In Oncology

Lee, Boram B; Lee, Hyunwoo H; Cho, Junhun J; Yoon, Sang Eun SE; Kim, Seok Jin SJ; Park, Woong-Yang WY; Kim, Won Seog WS; Ko, Young Hyeh YH

Publication Date: 2021

Variant appearance in text: RB1: P24P

PubMed Link: 33777778

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 1

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