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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
Undiagnosed Diseases Network
Molecular and Medical Genetics
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peer-review
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Dive into the research topics of 'Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease'. Together they form a unique fingerprint.
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Medicine & Life Sciences
Charcot-Marie-Tooth Disease
100%
Neurodevelopmental Disorders
86%
Nuclear Localization Signals
57%
R-Loop Structures
47%
Dichlorodiphenyl Dichloroethylene
43%
Phenotype
35%
Genes
29%
RNA Helicases
20%
Genetic Databases
19%
Exome
17%
Polyneuropathies
17%
Double-Stranded DNA Breaks
16%
Sensorineural Hearing Loss
16%
Homologous Recombination
16%
Tremor
15%
Genetic Association Studies
15%
Adenosine Triphosphatases
14%
Cytoplasm
12%
Fibroblasts
10%
Homeostasis
10%
Alleles
10%
Cell Line
8%
Neoplasms
4%