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CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency.
Yoshizaki Y, Ouchi Y, Kurniawan D, Yumoto E, Yoneyama Y, Rizqullah FR, Sato H, Sarholz MH, Natsume T, Kanemaki MT, Ikeda M, Ui A, Iemura K, Tanaka K. Yoshizaki Y, et al. Among authors: ouchi y. Sci Rep. 2024 Dec 30;14(1):31904. doi: 10.1038/s41598-024-83435-y. Sci Rep. 2024. PMID: 39738383 Free PMC article.
877 results