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A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.
Clin Case Rep. 2022 May 12;10(5):e05846. doi: 10.1002/ccr3.5846. eCollection 2022 May.
Clin Case Rep. 2022.
PMID: 35592045
Free PMC article.
Optical genome mapping enables constitutional chromosomal aberration detection.
Mantere T, Neveling K, Pebrel-Richard C, Benoist M, van der Zande G, Kater-Baats E, Baatout I, van Beek R, Yammine T, Oorsprong M, Hsoumi F, Olde-Weghuis D, Majdali W, Vermeulen S, Pauper M, Lebbar A, Stevens-Kroef M, Sanlaville D, Dupont JM, Smeets D, Hoischen A, Schluth-Bolard C, El Khattabi L.
Mantere T, et al. Among authors: hsoumi f.
Am J Hum Genet. 2021 Aug 5;108(8):1409-1422. doi: 10.1016/j.ajhg.2021.05.012. Epub 2021 Jul 7.
Am J Hum Genet. 2021.
PMID: 34237280
Free PMC article.
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