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ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution

ERCC excision repair 6 like 2 (ERCC6L2) gene encodes for different helicase-like protein members of the Snf2 family involved in transcription-coupled nucleotide excision repair and in cell proliferation. Germline homozygous mutations in children and adults predispose to a peculiar bone marrow failur...

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Detalles Bibliográficos
Autores principales:	Baccelli, Francesco, Leardini, Davide, Cerasi, Sara, Messelodi, Daria, Bertuccio, Salvatore Nicola, Masetti, Riccardo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2023
Materias:	Review Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9998559/ https://www.ncbi.nlm.nih.gov/pubmed/36790458 http://dx.doi.org/10.1007/s00277-023-05128-2

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