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VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.
Hum Genet. 2024 May;143(5):695-701. doi: 10.1007/s00439-024-02671-4. Epub 2024 Apr 12.
Hum Genet. 2024.
PMID: 38607411
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.
Hadar N, Porgador O, Cohen I, Levi H, Dolgin V, Yogev Y, Sued-Hendrickson S, Shelef I, Didkovsky E, Eskin-Schwartz M, Birk OS.
Hadar N, et al. Among authors: sued hendrickson s.
Eur J Hum Genet. 2024 May;32(5):550-557. doi: 10.1038/s41431-024-01559-1. Epub 2024 Mar 4.
Eur J Hum Genet. 2024.
PMID: 38433265
Free PMC article.
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