Associated Papers
Missense variant contribution to USP9X-female syndrome.
Jolly LA et al.
Npj Genomic Medicine, 2020
33298948 (PubMed )
Supplement: 41525_2020_162_MOESM1_ESM.pdf
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Reijnders MR et al.
American Journal of Human Genetics, 2016
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