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Vøllo, Arve

A5086760370 | I2801498763

Mayo Clinic

Odense University Hospital

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.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Human Mutation | March 2, 2016 | Volume: 37 | Issue: 7 | Pages: 653-660

10.1002/humu.22983 | PMID 26931382