Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP945384.RAa6nF0FFYMuAQfPX9HLzP6RWvmE8qku7UBGnu-b9cQns130_assertion> ?p ?o ?g. }
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- NP945384.RAa6nF0FFYMuAQfPX9HLzP6RWvmE8qku7UBGnu-b9cQns130_assertion type Assertion NP945384.RAa6nF0FFYMuAQfPX9HLzP6RWvmE8qku7UBGnu-b9cQns130_head.
- NP945384.RAa6nF0FFYMuAQfPX9HLzP6RWvmE8qku7UBGnu-b9cQns130_assertion description "[Biallelic mutations in PALB2 cause FA (Fanconi's anaemia) subtype FA-N, a devastating inherited disorder marked by developmental abnormalities, bone marrow failure and childhood cancer susceptibility, whereas monoallelic mutations predispose to breast, ovarian and pancreatic cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP945384.RAa6nF0FFYMuAQfPX9HLzP6RWvmE8qku7UBGnu-b9cQns130_provenance.
- NP945384.RAa6nF0FFYMuAQfPX9HLzP6RWvmE8qku7UBGnu-b9cQns130_assertion evidence source_evidence_literature NP945384.RAa6nF0FFYMuAQfPX9HLzP6RWvmE8qku7UBGnu-b9cQns130_provenance.
- NP945384.RAa6nF0FFYMuAQfPX9HLzP6RWvmE8qku7UBGnu-b9cQns130_assertion SIO_000772 24870022 NP945384.RAa6nF0FFYMuAQfPX9HLzP6RWvmE8qku7UBGnu-b9cQns130_provenance.
- NP945384.RAa6nF0FFYMuAQfPX9HLzP6RWvmE8qku7UBGnu-b9cQns130_assertion wasDerivedFrom befree-20150227 NP945384.RAa6nF0FFYMuAQfPX9HLzP6RWvmE8qku7UBGnu-b9cQns130_provenance.
- NP945384.RAa6nF0FFYMuAQfPX9HLzP6RWvmE8qku7UBGnu-b9cQns130_assertion wasGeneratedBy ECO_0000203 NP945384.RAa6nF0FFYMuAQfPX9HLzP6RWvmE8qku7UBGnu-b9cQns130_provenance.