1 | DKCD, ENOSF1, TYMS
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| Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
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| 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.
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| Am J Hum Genet. Aug 4;109(8):1472-1483. doi: 10.1016/j.ajhg.2022.06.014. 2022
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2 | ENOSF1, TYMS
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| Evaluating the role of ENOSF1 and TYMS variants as predictors in fluoropyrimidine-related toxicities: An IPD meta-analysis
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| Hamzic S, Kummer D, Froehlich TK, Joerger M, Aebi S, Palles C, Thomlinson I, Meulendijks D, Schellens JHM, García-González X, López-Fernández LA, Amstutz U, Largiadèr CR.
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| Pharmacol Res. Feb;152:104594. doi: 10.1016/j.phrs.2019.104594. Epub 2019 Dec 12. 2020
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3 | ENOSF1, SERPINA1
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| Identification of peptide regions of SERPINA1 and ENOSF1 and their protein expression as potential serum biomarkers for gastric cancer
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| Yang J, Xiong X, Wang X, Guo B, He K, Huang C.
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| Tumour Biol. Jul;36(7):5109-18. doi: 10.1007/s13277-015-3163-2. Epub 2015 Feb 14. 2015
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4 | ADCYAP1, CLUL1, MAFD1, ENOSF1, TYMS, YES1
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| Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population.
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| McInnes LA, Service SK, Reus VI, Barnes G, Charlat O, Jawahar S, Lewitzky S, Yang Q, Duong Q, Spesny M, Araya C, Araya X, Gallegos A, Meza L, Molina J, Ramirez R, Mendez R, Silva S, Fournier E, Batki SL, Mathews CA, Neylan T, Glatt CE, Escamilla MA, Luo D, Gajiwala P, Song T, Crook S, Nguyen JB, Roche E, Meyer JM, Leon P, Sandkuijl LA, Freimer NB, Chen H.
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| Proc Natl Acad Sci U S A 98(20):11485-90. 2001
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5 | ENOSF1
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| rTS gene expression is associated with altered cell sensitivity to thymidylate synthase inhibitors.
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| Dolnick BJ, Black AR, Winkler PM, Schindler K, Hsueh CT.
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| Adv Enzyme Regul 36:165-80. 1996
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6 | ENOSF1
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| Alternate splicing of the rTS gene product and its overexpression in a 5-fluorouracil-resistant cell line.
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| Dolnick BJ, Black AR.
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| Cancer Res 56(14):3207-10. 1996
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