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Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection.
Eur J Clin Invest. 2024 Jun;54(6):e14191. doi: 10.1111/eci.14191. Epub 2024 Mar 5.
Eur J Clin Invest. 2024.
PMID: 38440843
Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene.
Azevedo LS, Alvarez MAM, Botelho GIS, Rosa AAM, Souza GS.
Azevedo LS, et al. Among authors: alvarez mam.
Doc Ophthalmol. 2024 Feb;148(1):65-71. doi: 10.1007/s10633-023-09959-2. Epub 2024 Jan 3.
Doc Ophthalmol. 2024.
PMID: 38172268
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