This variant was identified in a population screening of patients with primary sclerosing cholangitis and inflammatory bowel syndromes. p.Arg75Gln was also identified in the carrier of this mutation.
Contributors and Institutes
Ruslan Dorfman
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The Hospital for Sick Children, Toronto,
Peter Durie
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The Hospital for Sick Children, Toronto,
Julian Zielenski
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The Hospital for Sick Children, Toronto,
Submitted Phenotype Details
Reference
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The Database was last updated at Apr 25, 2011
