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Derniers dépôts
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Laura Bryant, Dong Li, Samuel G Cox, Dylan Marchione, Evan F Joiner, et al.. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Science Advances , 2020, 6 (49), ⟨10.1126/sciadv.abc9207⟩. ⟨hal-04504898⟩
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Camille Engel, Stephanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, et al.. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European Journal of Human Genetics, 2023, 31 (9), pp.1023-1031. ⟨10.1038/s41431-023-01410-z⟩. ⟨hal-04254205⟩