• Mutation; HGNC; HGNC:11572; TARS1; Simple; p.Leu227Pro (c.680T>C); ClinVar=VCV000689399; Zygosity=Homozygous (PubMed=31374204).
  

PubMed=7671243
Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L., Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J., Bootsma D., Cleaver J.E., Sarasin A., Mezzina M.
Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases.
Cancer Res. 55:4325-4332(1995)

PubMed=31374204; DOI=10.1016/j.ajhg.2019.06.017; PMCID=PMC6698936
Theil A.F., Botta E., Raams A., Smith D.E.C., Mendes M.I., Caligiuri G., Giachetti S., Bione S., Carriero R., Liberi G., Zardoni L., Swagemakers S.M.A., Salomons G.S., Sarasin A., Lehmann A.R., van der Spek P.J., Ogi T., Hoeijmakers J.H.J., Vermeulen W., Orioli D.
Bi-allelic TARS mutations are associated with brittle hair phenotype.
Am. J. Hum. Genet. 105:434-440(2019)