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  • Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

    Published in:
    Human Genetics, 2019, v. 138, n. 11/12, p. 1409, doi. 10.1007/s00439-019-02077-7
    By:
    • Llaci, Lorida;
    • Ramsey, Keri;
    • Belnap, Newell;
    • Claasen, Ana M.;
    • Balak, Chris D.;
    • Szelinger, Szabolcs;
    • Jepsen, Wayne M.;
    • Siniard, Ashley L.;
    • Richholt, Ryan;
    • Izat, Tyler;
    • Naymik, Marcus;
    • De Both, Matt;
    • Piras, Ignazio S.;
    • Craig, David W.;
    • Huentelman, Matthew J.;
    • Narayanan, Vinodh;
    • Schrauwen, Isabelle;
    • Rangasamy, Sampathkumar
    Publication type:
    Article