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Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, Keays DA, Gleeson JG. Breuss MW, et al. Among authors: srivatsan a. Hum Mol Genet. 2017 Jan 15;26(2):258-269. doi: 10.1093/hmg/ddw383. Hum Mol Genet. 2017. PMID: 28013290 Free PMC article.
Cdc73 suppresses genome instability by mediating telomere homeostasis.
Nene RV, Putnam CD, Li BZ, Nguyen KG, Srivatsan A, Campbell CS, Desai A, Kolodner RD. Nene RV, et al. Among authors: srivatsan a. PLoS Genet. 2018 Jan 10;14(1):e1007170. doi: 10.1371/journal.pgen.1007170. eCollection 2018 Jan. PLoS Genet. 2018. PMID: 29320491 Free PMC article.
65 results