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Page 1
BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.
Case Rep Genet. 2022 Sep 13;2022:5503505. doi: 10.1155/2022/5503505. eCollection 2022.
Case Rep Genet. 2022.
PMID: 36148247
Free PMC article.
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Brown AL, Arts P, Carmichael CL, Babic M, Dobbins J, Chong CE, Schreiber AW, Feng J, Phillips K, Wang PPS, Ha T, Homan CC, King-Smith SL, Rawlings L, Vakulin C, Dubowsky A, Burdett J, Moore S, McKavanagh G, Henry D, Wells A, Mercorella B, Nicola M, Suttle J, Wilkins E, Li XC, Michaud J, Brautigan P, Cannon P, Altree M, Jaensch L, Fine M, Butcher C, D'Andrea RJ, Lewis ID, Hiwase DK, Papaemmanuil E, Horwitz MS, Natsoulis G, Rienhoff HY, Patton N, Mapp S, Susman R, Morgan S, Cooney J, Currie M, Popat U, Bochtler T, Izraeli S, Bradstock K, Godley LA, Krämer A, Fröhling S, Wei AH, Forsyth C, Mar Fan H, Poplawski NK, Hahn CN, Scott HS.
Brown AL, et al. Among authors: mckavanagh g.
Blood Adv. 2020 Mar 24;4(6):1131-1144. doi: 10.1182/bloodadvances.2019000901.
Blood Adv. 2020.
PMID: 32208489
Free PMC article.
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A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family.
Sexton A, Rawlings L, McKavanagh G, Simons K, Winship I.
Sexton A, et al. Among authors: mckavanagh g.
J Genet Couns. 2015 Dec;24(6):882-9. doi: 10.1007/s10897-015-9875-z. Epub 2015 Sep 2.
J Genet Couns. 2015.
PMID: 26323595
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