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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...
Autores principales: | Altintas, Burak, Giri, Neelam, McReynolds, Lisa J., Best, Ana, Alter, Blanche P. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Fondazione Ferrata Storti
2022
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Materias: | |
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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