Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP704182.RAnrSuouubScLv6EQA5InlNv3bcqZVRAfxgnUP3QX0eJY130_assertion> ?p ?o ?g. }
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- NP704182.RAnrSuouubScLv6EQA5InlNv3bcqZVRAfxgnUP3QX0eJY130_assertion type Assertion NP704182.RAnrSuouubScLv6EQA5InlNv3bcqZVRAfxgnUP3QX0eJY130_head.
- NP704182.RAnrSuouubScLv6EQA5InlNv3bcqZVRAfxgnUP3QX0eJY130_assertion wasGeneratedBy ECO_0000203 NP704182.RAnrSuouubScLv6EQA5InlNv3bcqZVRAfxgnUP3QX0eJY130_provenance.
- NP704182.RAnrSuouubScLv6EQA5InlNv3bcqZVRAfxgnUP3QX0eJY130_assertion wasDerivedFrom befree-2016 NP704182.RAnrSuouubScLv6EQA5InlNv3bcqZVRAfxgnUP3QX0eJY130_provenance.
- NP704182.RAnrSuouubScLv6EQA5InlNv3bcqZVRAfxgnUP3QX0eJY130_assertion SIO_000772 19016724 NP704182.RAnrSuouubScLv6EQA5InlNv3bcqZVRAfxgnUP3QX0eJY130_provenance.
- NP704182.RAnrSuouubScLv6EQA5InlNv3bcqZVRAfxgnUP3QX0eJY130_assertion evidence source_evidence_literature NP704182.RAnrSuouubScLv6EQA5InlNv3bcqZVRAfxgnUP3QX0eJY130_provenance.
- NP704182.RAnrSuouubScLv6EQA5InlNv3bcqZVRAfxgnUP3QX0eJY130_assertion description "[SBDS/7q11 gene mutations underlie the congenital Shwachman Diamond syndrome (SDS), characterized by bone marrow failure and high risk of haematological malignancies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP704182.RAnrSuouubScLv6EQA5InlNv3bcqZVRAfxgnUP3QX0eJY130_provenance.