Varaico: Literature-Extracted Genetic Variants

Gene:USP9X
Variant:p.L1693W
Back to variants list

USP9X

NM_001039591.3:p.L1693W

Associated Papers

Identification of USP9X as a leukemia susceptibility gene.

Sisoudiya SD et al.

Blood Advances, 2023

Missense variant contribution to USP9X-female syndrome.

Jolly LA et al.

Npj Genomic Medicine, 2020

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

Usp9X Controls Ankyrin-Repeat Domain Protein Homeostasis during Dendritic Spine Development.

Yoon S et al.

Neuron, 2020

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."