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Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort

Fanconi anemia (FA) is caused by pathogenic variants in the FA/BRCA DNA repair pathway genes, and is characterized by congenital abnormalities, bone marrow failure and an increased risk of cancer. We conducted a genotype-phenotype and outcomes study of 203 patients with FA in our cohort. We compared...

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Detalles Bibliográficos
Autores principales:	Altintas, Burak, Giri, Neelam, McReynolds, Lisa J., Best, Ana, Alter, Blanche P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Fondazione Ferrata Storti 2022
Materias:	Article - Bone Marrow Failure
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9827153/ https://www.ncbi.nlm.nih.gov/pubmed/35417938 http://dx.doi.org/10.3324/haematol.2021.279981

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