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Cláudia F Lorea Selected Research

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

11/2021Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.

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Cláudia F Lorea Research Topics

Disease

1Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
11/2021
1Inborn Genetic Diseases (Disease, Hereditary)
11/2021
1Hypothyroidism
01/2020
1Thyrotoxicosis
01/2020

Drug/Important Bio-Agent (IBA)

1Messenger RNA (mRNA)IBA
11/2021
1RNA Splice SitesIBA
11/2021
1RNA Precursors (Precursor, mRNA)IBA
11/2021
1Thyroid HormonesIBA
01/2020