Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
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Am J Hum Genet. 2022 Aug 4;109(8):1472-1483. doi: 10.1016/j.ajhg.2022.06.014.
Am J Hum Genet. 2022.
PMID: 35931051
Free PMC article.