Found: 2

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  • Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21878-x
    By:
    • Baxley, Ryan M.;
    • Leung, Wendy;
    • Schmit, Megan M.;
    • Matson, Jacob Peter;
    • Yin, Lulu;
    • Oram, Marissa K.;
    • Wang, Liangjun;
    • Taylor, John;
    • Hedberg, Jack;
    • Rogers, Colette B.;
    • Harvey, Adam J.;
    • Basu, Debashree;
    • Taylor, Jenny C.;
    • Pagnamenta, Alistair T.;
    • Dreau, Helene;
    • Craft, Jude;
    • Ormondroyd, Elizabeth;
    • Watkins, Hugh;
    • Hendrickson, Eric A.;
    • Mace, Emily M.
    Publication type:
    Article

  • Human NK cell deficiency as a result of biallelic mutations in MCM10.

    Published in:
    2020
    By:
    • Mace, Emily M;
    • Paust, Silke;
    • Conte, Matilde I;
    • Baxley, Ryan M;
    • Schmit, Megan M;
    • Patil, Sagar L;
    • Guilz, Nicole C;
    • Mukherjee, Malini;
    • Pezzi, Ashley E;
    • Chmielowiec, Jolanta;
    • Tatineni, Swetha;
    • Chinn, Ivan K;
    • Akdemir, Zeynep Coban;
    • Jhangiani, Shalini N;
    • Muzny, Donna M;
    • Stray-Pedersen, Asbjørg;
    • Bradley, Rachel E;
    • Moody, Mo;
    • Connor, Philip P;
    • Heaps, Adrian G
    Publication type:
    journal article