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

Crossref DOI link: https://doi.org/10.1038/s41598-022-09097-w

Published Online: 2022-03-30

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Jiang, Bingcheng

Murray, Cameron

Cole, Bonnie L.

Glover, J. N. Mark

Chan, Gordon K.

Deschenes, Jean

Mani, Rajam S.

Subedi, Sudip

Nerva, John D.

Wang, Anthony C.

Lockwood, Christina M.

Mefford, Heather C.

Leary, Sarah E. S.

Ojemann, Jeffery G.

Weinfeld, Michael

Ene, Chibawanye I.
Funding

Funding for this research was provided by:

The Canadian Institutes of Health Research (MOP15385)

National Institute of Neurological Disorders and Stroke, National Institutes of Health (R25NS079200)
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Article History

Received: 10 October 2021

Accepted: 4 March 2022

First Online: 30 March 2022

Competing interests

: The authors declare no competing interests.

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