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Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome.
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- Frontiers in Immunology, 2024, p. 01, doi. 10.3389/fimmu.2024.1451212
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Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1172004
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- Article