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Article

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

Haematologica - 1 Jan 2023

Altintas Burak, Giri Neelam, McReynolds Lisa J, Best Ana, Alter Blanche P

Abstract excerpt

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 (BMF) and increased cancer risk. We conducted a genotype-phenotype and outcomes study of 203 patients with FA in our cohort. We compared across the genes, FA/BRCA DNA repair pathways (upstream, ID complex and downstream), and type of pathogenic...

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Identifiers

PMID: 35417938
DOI: 10.3324/haematol.2021.279981
PMCID: PMC9827153

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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