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
Beyond Huntington's Disease - Late-Onset Chorea Caused by a Homozygous Variant in ERCC4.
Barthel PC et al.
Cerebellum (london, England), 2024
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.
Doi H et al.
Journal of Human Genetics, 2018
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