Varaico: Literature-Extracted Genetic Variants

Gene:USP9X
Variant:p.Q640H
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USP9X

NM_001039591.3:p.Q640H

Associated Papers

Computationally predicted pathogenic USP9X mutation identified in infertile men does not affect spermatogenesis in mice.

Liu W et al.

Zoological Research, 2022

Family-Based Next-Generation Sequencing Study Identifies an IL2RG Variant in an Infant with Primary Immunodeficiency.

Bandari AK et al.

Omics : a Journal of Integrative Biology, 2019

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.

Yemni EA et al.

Scientific Reports, 2019

30833663 (PubMed )
Supplement: 41598_2019_40102_MOESM1_ESM.pdf

Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.

Vettore AL et al.

Genome Medicine, 2015

26395002 (PubMed )
Supplement: 13073_2015_219_MOESM12_ESM.xls › Plan1

X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.

Bissar-Tadmouri N et al.

American Journal of Medical Genetics. Part A, 2014

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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."