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Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Blood. 2023 Feb 9;141(6):645-658. doi: 10.1182/blood.2022016783.
Blood. 2023.
PMID: 36223592
Free PMC article.
Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi-organ autoimmunity.
Blombery P, Pazhakh V, Albuquerque AS, Maimaris J, Tu L, Briones Miranda B, Evans F, Thompson ER, Carpenter B, Proctor I, Curtin JA, Lambert J, Burns SO, Lieschke GJ.
Blombery P, et al. Among authors: briones miranda b.
EJHaem. 2023 Apr 30;4(2):463-469. doi: 10.1002/jha2.698. eCollection 2023 May.
EJHaem. 2023.
PMID: 37206266
Free PMC article.
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