Varaico: Literature-Extracted Genetic Variants

Gene:USP9X
Variant:p.Q1255*
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USP9X

NM_001039591.3:p.Q1255*

Associated Papers

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Wilson K et al.

Human Molecular Genetics, 2023

37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4

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
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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."