Associated Papers
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.
Failla P et al.
International Journal of Molecular Sciences, 2024
39769235 (PubMed )
Supplement: ijms-25-13471-s001.zip › ijms-3315401-supplementary.xlsx › Foglio1
Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.
Osorio A et al.
Human Mutation, 2013
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
Bogliolo M et al.
American Journal of Human Genetics, 2013
Select a paper to view details