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Cathey, Sara

https://orcid.org/0000-0002-5580-7683

A5032447674 | I4210149064

Greenwood Genetic Center

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.

Expanding the Molecular and Clinical Phenotype of SSR4-CDG

Human Mutation | August 12, 2015 | Volume: 36 | Issue: 11 | Pages: 1048-1051

10.1002/humu.22856 | PMID 26264460