| 1 | DKCD, ENOSF1, TYMS |
| Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita | |
| Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I. | |
| Am J Hum Genet. Aug 4;109(8):1472-1483. doi: 10.1016/j.ajhg.2022.06.014. 2022 | |