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- NP768634.RAqltf1r3RzBa-rLEwWe3O_c_ocUwFkZ2G9FBkd-zv-xw130_assertion type Assertion NP768634.RAqltf1r3RzBa-rLEwWe3O_c_ocUwFkZ2G9FBkd-zv-xw130_head.
- NP768634.RAqltf1r3RzBa-rLEwWe3O_c_ocUwFkZ2G9FBkd-zv-xw130_assertion description "[Hyperinsulinism-hyperammonemia syndrome (HI/HA) (OMIM 606762), the second most common form of congenital hyperinsulinism (CHI) is associated with activating missense mutations in the GLUD1 gene, which encodes the mitochondrial matrix enzyme, glutamate dehydrogenase (GDH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP768634.RAqltf1r3RzBa-rLEwWe3O_c_ocUwFkZ2G9FBkd-zv-xw130_provenance.
- NP768634.RAqltf1r3RzBa-rLEwWe3O_c_ocUwFkZ2G9FBkd-zv-xw130_assertion evidence source_evidence_literature NP768634.RAqltf1r3RzBa-rLEwWe3O_c_ocUwFkZ2G9FBkd-zv-xw130_provenance.
- NP768634.RAqltf1r3RzBa-rLEwWe3O_c_ocUwFkZ2G9FBkd-zv-xw130_assertion SIO_000772 21932603 NP768634.RAqltf1r3RzBa-rLEwWe3O_c_ocUwFkZ2G9FBkd-zv-xw130_provenance.
- NP768634.RAqltf1r3RzBa-rLEwWe3O_c_ocUwFkZ2G9FBkd-zv-xw130_assertion wasDerivedFrom befree-20140225 NP768634.RAqltf1r3RzBa-rLEwWe3O_c_ocUwFkZ2G9FBkd-zv-xw130_provenance.
- NP768634.RAqltf1r3RzBa-rLEwWe3O_c_ocUwFkZ2G9FBkd-zv-xw130_assertion wasGeneratedBy ECO_0000203 NP768634.RAqltf1r3RzBa-rLEwWe3O_c_ocUwFkZ2G9FBkd-zv-xw130_provenance.