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American Journal of Human Genetics|August 3, 2019
Bi-allelic TARS Mutations Are Associated with Brittle Hair PhenotypeArjan F Theil, Elena Botta, Anja Raams, et al.Human Molecular Genetics|April 28, 2021
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophyElena Botta, Arjan F Theil, Anja Raams, et al.Proceedings of the National Academy of Sciences of the United States of America|February 18, 2016
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defectHiva Fassihi, Mieran Sethi, Heather Fawcett, et al.Pageof 3