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CMT2A
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Body Atlas
Most Correlated Tissues
Colon mucosa
Ileum mucosa
Eosinophil of peripheral blood
Sigmoid colon
Bladder
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Disease Atlas
Most Correlated Diseases
Pyloric ulcer
Disease due to Adenovirus
Infectious disease of lung
Lower respiratory tract infection
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Dactinomycin
pyroxamide
cylindrospermopsin
ITF 2357
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MIR10A
CAVIN1
SMNDC1
MUTYH
EFCAB2
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Literature
Most Relevant Literature
Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules.
Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7K126R Mutation.
A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients.
Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturatio…
Alteration of the late endocytic pathway in Charcot-Marie-Tooth type 2B disease.
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Clinical Trials
Most Relevant Clinical Trials
Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (MetaDLM_CMT2A)
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, an…
Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study
Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neur…
Natural History Study of SLC25A46 Mutation-related Mitochondriopathy
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