Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP241561.RA7Duq6N9n9d0tm1_julfGKutZA4iYqXEpq4zwC4XRlcY130_assertion> ?p ?o ?g. }
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- NP241561.RA7Duq6N9n9d0tm1_julfGKutZA4iYqXEpq4zwC4XRlcY130_assertion type Assertion NP241561.RA7Duq6N9n9d0tm1_julfGKutZA4iYqXEpq4zwC4XRlcY130_head.
- NP241561.RA7Duq6N9n9d0tm1_julfGKutZA4iYqXEpq4zwC4XRlcY130_assertion description "[Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC and a patient with AIH type 1 carried a R257X mutation, and a patient with AIH type 2, diabetes mellitus type 1 (IDDM), thyroid disease, and atrophic gastritis carried a G305S mutation in the first PHD ring finger domain of the AIRE protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP241561.RA7Duq6N9n9d0tm1_julfGKutZA4iYqXEpq4zwC4XRlcY130_provenance.
- NP241561.RA7Duq6N9n9d0tm1_julfGKutZA4iYqXEpq4zwC4XRlcY130_assertion evidence source_evidence_literature NP241561.RA7Duq6N9n9d0tm1_julfGKutZA4iYqXEpq4zwC4XRlcY130_provenance.
- NP241561.RA7Duq6N9n9d0tm1_julfGKutZA4iYqXEpq4zwC4XRlcY130_assertion SIO_000772 11343230 NP241561.RA7Duq6N9n9d0tm1_julfGKutZA4iYqXEpq4zwC4XRlcY130_provenance.
- NP241561.RA7Duq6N9n9d0tm1_julfGKutZA4iYqXEpq4zwC4XRlcY130_assertion wasDerivedFrom befree-20150227 NP241561.RA7Duq6N9n9d0tm1_julfGKutZA4iYqXEpq4zwC4XRlcY130_provenance.
- NP241561.RA7Duq6N9n9d0tm1_julfGKutZA4iYqXEpq4zwC4XRlcY130_assertion wasGeneratedBy ECO_0000203 NP241561.RA7Duq6N9n9d0tm1_julfGKutZA4iYqXEpq4zwC4XRlcY130_provenance.