Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1245283.RAIUcXXLO5xrY0EGsmXUoUVpQSHQqEKDbphGYExb9Kblc130_assertion> ?p ?o ?g. }
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- NP1245283.RAIUcXXLO5xrY0EGsmXUoUVpQSHQqEKDbphGYExb9Kblc130_assertion type Assertion NP1245283.RAIUcXXLO5xrY0EGsmXUoUVpQSHQqEKDbphGYExb9Kblc130_head.
- NP1245283.RAIUcXXLO5xrY0EGsmXUoUVpQSHQqEKDbphGYExb9Kblc130_assertion description "[Autosomal-recessive variants in MCM9 cause a genomic-instability syndrome associated with hypergonadotropic hypogonadism and short stature.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1245283.RAIUcXXLO5xrY0EGsmXUoUVpQSHQqEKDbphGYExb9Kblc130_provenance.
- NP1245283.RAIUcXXLO5xrY0EGsmXUoUVpQSHQqEKDbphGYExb9Kblc130_assertion evidence source_evidence_literature NP1245283.RAIUcXXLO5xrY0EGsmXUoUVpQSHQqEKDbphGYExb9Kblc130_provenance.
- NP1245283.RAIUcXXLO5xrY0EGsmXUoUVpQSHQqEKDbphGYExb9Kblc130_assertion SIO_000772 25480036 NP1245283.RAIUcXXLO5xrY0EGsmXUoUVpQSHQqEKDbphGYExb9Kblc130_provenance.
- NP1245283.RAIUcXXLO5xrY0EGsmXUoUVpQSHQqEKDbphGYExb9Kblc130_assertion wasDerivedFrom befree-2016 NP1245283.RAIUcXXLO5xrY0EGsmXUoUVpQSHQqEKDbphGYExb9Kblc130_provenance.
- NP1245283.RAIUcXXLO5xrY0EGsmXUoUVpQSHQqEKDbphGYExb9Kblc130_assertion wasGeneratedBy ECO_0000203 NP1245283.RAIUcXXLO5xrY0EGsmXUoUVpQSHQqEKDbphGYExb9Kblc130_provenance.