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Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion.
Tovy A, Reyes JM, Gundry MC, Brunetti L, Lee-Six H, Petljak M, Park HJ, Guzman AG, Rosas C, Jeffries AR, Baple E, Mill J, Crosby AH, Sency V, Xin B, Machado HE, Castillo D, Weitzel JN, Li W, Stratton MR, Campbell PJ, Wang H, Sanders MA, Goodell MA. Tovy A, et al. Among authors: wang h. Cell Stem Cell. 2020 Aug 6;27(2):326-335.e4. doi: 10.1016/j.stem.2020.06.018. Epub 2020 Jul 15. Cell Stem Cell. 2020. PMID: 32673568 Free PMC article.
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.
Xin B, Jones S, Puffenberger EG, Hinze C, Bright A, Tan H, Zhou A, Wu G, Vargus-Adams J, Agamanolis D, Wang H. Xin B, et al. Among authors: wang h. Proc Natl Acad Sci U S A. 2011 Mar 29;108(13):5372-7. doi: 10.1073/pnas.1014265108. Epub 2011 Mar 14. Proc Natl Acad Sci U S A. 2011. PMID: 21402907 Free PMC article.
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.
He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE, de la Chapelle A. He H, et al. Among authors: wang h. Science. 2011 Apr 8;332(6026):238-40. doi: 10.1126/science.1200587. Science. 2011. PMID: 21474760 Free PMC article.
151,903 results
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