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Héron, Delphine

A5107378778 | I4210097159

Mayo Clinic

Assistance Publique – Hôpitaux de Paris

Citations 2

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 | December 3, 2020 | Volume: 6 | Issue: 49 | Pages: No page available

10.1126/sciadv.abc9207 | PMID 33268356

Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Human Mutation | February 28, 2019 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.1002/humu.23731 | PMID 30817854