Associated Papers
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMMC6.xlsx › SupplementalTableS5
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.
Di Fede E et al.
Human Genetics, 2024
A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.
Wagner VF et al.
American Journal of Medical Genetics. Part A, 2019
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