Varaico: Literature-Extracted Genetic Variants

Gene:USP9X
Variant:p.R371*
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USP9X

NM_001039591.3:p.R371*

Associated Papers

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S3

Missense variant contribution to USP9X-female syndrome.

Jolly LA et al.

Npj Genomic Medicine, 2020

33298948 (PubMed )
Supplement: 41525_2020_162_MOESM1_ESM.pdf

Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.

Wang L et al.

Molecular Autism, 2020

33023636 (PubMed )
Supplement: 13229_2020_382_MOESM1_ESM.pdf

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."