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Familial dysautonomia
- ... locations in the brain. Nearly all individuals with familial dysautonomia have two copies of the same mutation in ... the protein.In a small number of reported familial dysautonomia cases, researchers have identified other mutations that change ...
- ... B. TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. ...
