Associated Papers
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.
Lubin EE et al.
Hgg Advances, 2025
40241305 (PubMed )
Supplement: mmc4.xlsx › Sheet12
H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
Borja N et al.
American Journal of Medical Genetics. Part A, 2023
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Tessadori F et al.
American Journal of Human Genetics, 2022
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