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Ullrich congenital muscular dystrophy
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
COL6A3
COL6A2
COL6A1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
extracellular matrix structural constituent conferring tensile strength
TSAI_RESPONSE_TO_RADIATION_THERAPY
SCHRAETS_MLL_TARGETS_DN
CLASPER_LYMPHATIC_VESSELS_DURING_METASTASIS_DN
REACTOME_NCAM1_INTERACTIONS
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Curated Studies
Most Correlated Studies
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Teaching NeuroImages: Characteristic phenotype of Ullrich congenital muscular dystrophy.
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy…
Ullrich congenital muscular dystrophy: report of nine cases from India.
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counse…
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations…
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Clinical Trials
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Global Registry for COL6-related Dystrophies
Low Protein Diet in Patients With Collagen VI Related Myopathies
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Safety and Efficacy of AIV001 on Scar Formation and Keloid Recurrence Following Keloidectomy
Efficacy, Safety, and Tolerability of Remlarsen (MRG-201) Following Intradermal Injection in Subject…
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