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Variants in the 5â²UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
Babu, Deepak, Vannelli, Silvia, Fanelli, Antonella, Mellone, Simona, Baffico, Ave Maria, Corrado, Lucia, Essa, Wael Al, Grandone, Anna, Bellone, Simonetta, Monzani, Alice, Vinci, Giulia, De Sanctis, LJournal:
European Journal of Human Genetics
DOI:
10.1038/s41431-020-0676-y
Date:
July, 2020
File:
PDF, 1.19 MB
2020