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XB-GENEPAGE-954585
tor1aip1 torsin A interacting protein 1
Monarch Ortholog Phenotypes
These phenotypes are associated with this gene with a has phenotype relation via Monarch.
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Human (7 sources): Ankle flexion contracture, Elevated circulating creatine kinase concentration, Flexion contracture, Increased endomysial connective tissue, Muscle weakness, Muscular dystrophy, Spinal rigidity |
Mouse (3 sources): abnormal cell nucleus morphology, perinatal lethality, complete penetrance, preweaning lethality, complete penetrance |
View all ortholog results at Monarch |