Works matching IS 09646906 AND DT 2025 AND VI 34 AND IP 9


Results: 7
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    A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models Open Access.

    Published in:
    Human Molecular Genetics, 2025, v. 34, n. 9, p. 821, doi. 10.1093/hmg/ddaf029
    By:
    • Corral-Serrano, Julio C;
    • Vaclavik, Veronika;
    • Sompele, Stijn Van de;
    • Kaminska, Karolina;
    • Jovanovic, Katarina;
    • Escher, Pascal;
    • Broeck, Filip Van den;
    • Cancellieri, Francesca;
    • Toulis, Vasileios;
    • Leroy, Bart P;
    • Zaeytijd, Julie de;
    • You, Zhixuan;
    • Ottaviani, Daniele;
    • Quinodoz, Mathieu;
    • Bordeanu, Gabriela;
    • Hardcastle, Alison J;
    • Coppieters, Frauke;
    • Tran, Viet H;
    • Cheetham, Michael E;
    • Rivolta, Carlo
    Publication type:
    Article
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