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Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
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Science Advances | December 3, 2020 | Volume: 6 | Issue: 49 | Pages: No page available
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
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Human Mutation | October 9, 2019 | Volume: 41 | Issue: 1 | Pages: 299-315