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
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M et al.
Journal of Medical Genetics, 2020
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Sabatella M et al.
Nucleic Acids Research, 2018
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Mori T et al.
Human Mutation, 2018
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
Bogliolo M et al.
American Journal of Human Genetics, 2013
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