Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome

Autores na Equipe: Leony Morgana Galiano e Leticia Schwerz Weinert
Períodico/Edição: Proceedings of the National Academy of Sciences
Ano: 2021
Link para acesso: <a href="https://www.sciencedirect.com/science/article/pii/S0021755720302576?via%3Dihub"> h ttps://www.pnas.org/content/118/19/e2017777118

Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome