Content Comparison

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Gene-disease assertions not curated here (add link or write note):

1. Katie Russel Russell is a Broad expert on ABCC8 - she shared these slides https://docs.google.com/presentation/d/1Lw5xnS3-EUYBMeSBMQ9euHRG45imqOWDTQ6KRSdGiw8/edit#slide=id.p Her summary -

   1. CHI

      1. AR - caused by LOF

         1. Some patients with somatic UPD of the pancreas of carriers can develop focal CHI

      2. AD - dominant negative

2. Did not curate Semidominant monogenic diabetes (MODY) - definitive (GOF / activating mutations by Monogenic diabetes GCEP. They note that inactivating LOF variants cause hyperinsulinemic hypoglycemia.

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