Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP811529.RA2KGyZ3juYJPTQj8W5saPQi7IGu4-_a9MnGEEAHcFMC8130_assertion> ?p ?o ?g. }
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- NP811529.RA2KGyZ3juYJPTQj8W5saPQi7IGu4-_a9MnGEEAHcFMC8130_assertion type Assertion NP811529.RA2KGyZ3juYJPTQj8W5saPQi7IGu4-_a9MnGEEAHcFMC8130_head.
- NP811529.RA2KGyZ3juYJPTQj8W5saPQi7IGu4-_a9MnGEEAHcFMC8130_assertion description "[Congenital central hypoventilation syndrome (CCHS), a rare disorder typically presenting in the newborn period, results in over 90% of cases from PHOX2B polyalanine repeat mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP811529.RA2KGyZ3juYJPTQj8W5saPQi7IGu4-_a9MnGEEAHcFMC8130_provenance.
- NP811529.RA2KGyZ3juYJPTQj8W5saPQi7IGu4-_a9MnGEEAHcFMC8130_assertion evidence source_evidence_literature NP811529.RA2KGyZ3juYJPTQj8W5saPQi7IGu4-_a9MnGEEAHcFMC8130_provenance.
- NP811529.RA2KGyZ3juYJPTQj8W5saPQi7IGu4-_a9MnGEEAHcFMC8130_assertion SIO_000772 18340402 NP811529.RA2KGyZ3juYJPTQj8W5saPQi7IGu4-_a9MnGEEAHcFMC8130_provenance.
- NP811529.RA2KGyZ3juYJPTQj8W5saPQi7IGu4-_a9MnGEEAHcFMC8130_assertion wasDerivedFrom befree-20150227 NP811529.RA2KGyZ3juYJPTQj8W5saPQi7IGu4-_a9MnGEEAHcFMC8130_provenance.
- NP811529.RA2KGyZ3juYJPTQj8W5saPQi7IGu4-_a9MnGEEAHcFMC8130_assertion wasGeneratedBy ECO_0000203 NP811529.RA2KGyZ3juYJPTQj8W5saPQi7IGu4-_a9MnGEEAHcFMC8130_provenance.