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- source_evidence_curated type ECO_0000205 NP2557.RAwere2hhN-LXBYHMbnV9k-HW0FD0ZqN-6bsuWDgIicfc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2557.RAwere2hhN-LXBYHMbnV9k-HW0FD0ZqN-6bsuWDgIicfc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2557.RAwere2hhN-LXBYHMbnV9k-HW0FD0ZqN-6bsuWDgIicfc130_provenance.
- NP2557.RAwere2hhN-LXBYHMbnV9k-HW0FD0ZqN-6bsuWDgIicfc130_assertion description "[Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2557.RAwere2hhN-LXBYHMbnV9k-HW0FD0ZqN-6bsuWDgIicfc130_provenance.
- NP2557.RAwere2hhN-LXBYHMbnV9k-HW0FD0ZqN-6bsuWDgIicfc130_assertion evidence source_evidence_curated NP2557.RAwere2hhN-LXBYHMbnV9k-HW0FD0ZqN-6bsuWDgIicfc130_provenance.
- NP2557.RAwere2hhN-LXBYHMbnV9k-HW0FD0ZqN-6bsuWDgIicfc130_assertion SIO_000772 12627230 NP2557.RAwere2hhN-LXBYHMbnV9k-HW0FD0ZqN-6bsuWDgIicfc130_provenance.
- NP2557.RAwere2hhN-LXBYHMbnV9k-HW0FD0ZqN-6bsuWDgIicfc130_assertion wasDerivedFrom uniprot-2016 NP2557.RAwere2hhN-LXBYHMbnV9k-HW0FD0ZqN-6bsuWDgIicfc130_provenance.
- NP2557.RAwere2hhN-LXBYHMbnV9k-HW0FD0ZqN-6bsuWDgIicfc130_assertion wasGeneratedBy ECO_0000218 NP2557.RAwere2hhN-LXBYHMbnV9k-HW0FD0ZqN-6bsuWDgIicfc130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP2557.RAwere2hhN-LXBYHMbnV9k-HW0FD0ZqN-6bsuWDgIicfc130_provenance.