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C9orf72 functions in the nucleus to regulate DNA damage repair.
He L, Liang J, Chen C, Chen J, Shen Y, Sun S, Li L. He L, et al. Among authors: shen y. Cell Death Differ. 2023 Mar;30(3):716-730. doi: 10.1038/s41418-022-01074-0. Epub 2022 Oct 11. Cell Death Differ. 2023. PMID: 36220889 Free PMC article.
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges.
Turina P, Dal Cortivo G, Enriquez Sandoval CA, Alexov E, Ascher DB, Babbi G, Bakolitsa C, Casadio R, Fariselli P, Folkman L, Kamandula A, Katsonis P, Li D, Lichtarge O, Martelli PL, Panday SK, Pires DEV, Portelli S, Pucci F, Rodrigues CHM, Rooman M, Savojardo C, Schwersensky M, Shen Y, Strokach AV, Sun Y, Woo J, Radivojac P, Brenner SE, Dell'Orco D, Capriotti E. Turina P, et al. Among authors: shen y. Hum Genet. 2024 Dec 23. doi: 10.1007/s00439-024-02720-y. Online ahead of print. Hum Genet. 2024. PMID: 39714488
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