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- source_evidence_literature type ECO_0000212 NP863530.RAprmqFe5HBqSorYsZLtOfzzmTRuWmBxClucLWOnWq8vc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP863530.RAprmqFe5HBqSorYsZLtOfzzmTRuWmBxClucLWOnWq8vc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP863530.RAprmqFe5HBqSorYsZLtOfzzmTRuWmBxClucLWOnWq8vc130_provenance.
- befree-2016 importedOn "2016-02-19" NP863530.RAprmqFe5HBqSorYsZLtOfzzmTRuWmBxClucLWOnWq8vc130_provenance.
- NP863530.RAprmqFe5HBqSorYsZLtOfzzmTRuWmBxClucLWOnWq8vc130_assertion wasGeneratedBy ECO_0000203 NP863530.RAprmqFe5HBqSorYsZLtOfzzmTRuWmBxClucLWOnWq8vc130_provenance.
- NP863530.RAprmqFe5HBqSorYsZLtOfzzmTRuWmBxClucLWOnWq8vc130_assertion wasDerivedFrom befree-2016 NP863530.RAprmqFe5HBqSorYsZLtOfzzmTRuWmBxClucLWOnWq8vc130_provenance.
- NP863530.RAprmqFe5HBqSorYsZLtOfzzmTRuWmBxClucLWOnWq8vc130_assertion SIO_000772 21211528 NP863530.RAprmqFe5HBqSorYsZLtOfzzmTRuWmBxClucLWOnWq8vc130_provenance.
- NP863530.RAprmqFe5HBqSorYsZLtOfzzmTRuWmBxClucLWOnWq8vc130_assertion evidence source_evidence_literature NP863530.RAprmqFe5HBqSorYsZLtOfzzmTRuWmBxClucLWOnWq8vc130_provenance.
- NP863530.RAprmqFe5HBqSorYsZLtOfzzmTRuWmBxClucLWOnWq8vc130_assertion description "[We present the case report of a 2 year old boy with early onset extreme obesity (body mass index (BMI) 34.2 kg/m²; body mass index standard deviation score (BMI-SDS) 5.4) who is heterozygous for a non-conservative functionally relevant melanocortin MC(4)receptor mutation (Glu308Lys) and who also showed severe symptoms of attention deficit/hyperactivity disorder (ADHD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP863530.RAprmqFe5HBqSorYsZLtOfzzmTRuWmBxClucLWOnWq8vc130_provenance.