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Uncovering the Molecular Drivers of NHEJ DNA Repair-Implicated Missense Variants and Their Functional Consequences

Variants in non-homologous end joining (NHEJ) DNA repair genes are associated with various human syndromes, including microcephaly, growth delay, Fanconi anemia, and different hereditary cancers. However, very little has been done previously to systematically record the underlying molecular conseque...

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Detalles Bibliográficos
Autores principales: Al-Jarf, Raghad, Karmakar, Malancha, Myung, Yoochan, Ascher, David B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606680/
https://www.ncbi.nlm.nih.gov/pubmed/37895239
http://dx.doi.org/10.3390/genes14101890