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Lysosomal SLC46A3 modulates hepatic cytosolic copper homeostasis.
Kim JH, Matsubara T, Lee J, Fenollar-Ferrer C, Han K, Kim D, Jia S, Chang CJ, Yang H, Nagano T, Krausz KW, Yim SH, Gonzalez FJ. Kim JH, et al. Among authors: fenollar ferrer c. Nat Commun. 2021 Jan 12;12(1):290. doi: 10.1038/s41467-020-20461-0. Nat Commun. 2021. PMID: 33436590 Free PMC article.
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
Roux I, Fenollar-Ferrer C, Lee HJ, Chattaraj P, Lopez IA, Han K, Honda K, Brewer CC, Butman JA, Morell RJ, Martin DM, Griffith AJ. Roux I, et al. Among authors: fenollar ferrer c. Hum Genet. 2023 Oct;142(10):1499-1517. doi: 10.1007/s00439-023-02581-x. Epub 2023 Sep 5. Hum Genet. 2023. PMID: 37668839 Free PMC article.
33 results