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Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay. (2024)

First Author: Thuresson AC

Attributed to: Mechanisms of DNA Single-Strand Break-Induced Genetic Disease and Opportunities for Therapeutic Intervention funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1002/mgg3.2295

PubMed Identifier: 37916443

Publication URI: http://europepmc.org/abstract/MED/37916443

Type: Journal Article/Review

Volume: 12

Parent Publication: Molecular genetics & genomic medicine

Issue: 1

ISSN: 2324-9269