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alwail a[au]
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A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
HGG Adv. 2024 Jul 18;5(3):100299. doi: 10.1016/j.xhgg.2024.100299. Epub 2024 Apr 24.
HGG Adv. 2024.
PMID: 38659227
Free PMC article.
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
AlMail A, Jamjoom A, Pan A, Feng MY, Chau V, D'Gama AM, Howell K, Liang NSY, McTague A, Poduri A, Wiltrout K; IPCHiP Executive Committee; Bassett AS, Christodoulou J, Dupuis L, Gill P, Levy T, Siper P, Stark Z, Vorstman JAS, Diskin C, Jewitt N, Baribeau D, Costain G.
AlMail A, et al.
NPJ Genom Med. 2024 Apr 6;9(1):27. doi: 10.1038/s41525-024-00408-w.
NPJ Genom Med. 2024.
PMID: 38582909
Free PMC article.
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