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Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Akdemir ZC, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA. Chen A, et al. Among authors: salz hk. Hum Mol Genet. 2018 Jun 1;27(11):1913-1926. doi: 10.1093/hmg/ddy098. Hum Mol Genet. 2018. PMID: 29566152 Free PMC article.
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[No authors listed] [No authors listed] PMID: 34004847
43 results