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Category:
Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene:
RAPGEF6
Variant Detected:
c.1793_1794ins36, p.(Ile587ProfsTer5) on Chr 11
Severity:
Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.
Mode of Inheritance:
Autosomal Recessive with Incomplete Penetrance
Research Citation(s):
Hadji Rasouliha, 2019, PLoS Genet 15(10): e1008416.
Associated Breed(s):
Bull Terrier, Miniature Bull Terrier,