Works matching IS 00034800 AND DT 2022 AND VI 86 AND IP 3


Results: 7
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    Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.

    Published in:
    Annals of Human Genetics, 2022, v. 86, n. 3, p. 109, doi. 10.1111/ahg.12455
    By:
    • Gómez‐González, Clara;
    • Pizarro‐Sánchez, Cristina;
    • Rodríguez‐Antolín, Carlos;
    • Pascual‐Pascual, Ignacio;
    • Garcia‐Romero, Mar;
    • Rodriguez‐Jiménez, Carmen;
    • de Sancho‐Martín, Rubén;
    • del Pozo‐Mate, Ángela;
    • Solís‐López, Mario;
    • Prior‐de Castro, Carmen;
    • Torres, Rosa J
    Publication type:
    Article
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    Issue Information.

    Published in:
    Annals of Human Genetics, 2022, v. 86, n. 3, p. i, doi. 10.1111/ahg.12432
    Publication type:
    Article