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PubMed for id: 1676316893

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Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Brauer N, Maruta Y, Lisci M, Strege K, Oschlies I, Nakamura H, Böhm S, Lehmberg K, Brandhoff L, Ehl S, Parvaneh N, Klapper W, Fukuda M, Griffiths GM, Hennies HC, Niehues T, Ammann S. Brauer N, et al. Front Immunol. 2023 Jun 14;14:1151166. doi: 10.3389/fimmu.2023.1151166. eCollection 2023. Front Immunol. 2023. PMID: 37388727 Free PMC article.
Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.
Tajik S, Badalzadeh M, Houshmand M, Alizadeh Z, Moradi L, Hamidieh AA, Shafiei A, Heris JA, Bahram S, Molitor A, Carapito R, Moin M, Fazlollahi MR, Pourpak Z. Tajik S, et al. Scand J Immunol. 2023 May;97(5):e13264. doi: 10.1111/sji.13264. Epub 2023 Mar 21. Scand J Immunol. 2023. PMID: 37368332 Free article.