Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP580547.RAGUr-sqL-taJELriox-9fW1yKJ8SG7TRh1_1zyWCKlN4130_assertion> ?p ?o ?g. }
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- NP580547.RAGUr-sqL-taJELriox-9fW1yKJ8SG7TRh1_1zyWCKlN4130_assertion type Assertion NP580547.RAGUr-sqL-taJELriox-9fW1yKJ8SG7TRh1_1zyWCKlN4130_head.
- NP580547.RAGUr-sqL-taJELriox-9fW1yKJ8SG7TRh1_1zyWCKlN4130_assertion description "[In 166 patients (25.9%) the disease was familial and caused by germline mutations in VHL (56), SDHB (34), SDHD (31), RET (31) or NF1 (14), causing von Hippel-Lindau disease, SDHB- or SDHD-PH/FPGL syndromes, multiple endocrine neoplasia type 2 (MEN 2) and type 1 neurofibromatosis (NF1), respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP580547.RAGUr-sqL-taJELriox-9fW1yKJ8SG7TRh1_1zyWCKlN4130_provenance.
- NP580547.RAGUr-sqL-taJELriox-9fW1yKJ8SG7TRh1_1zyWCKlN4130_assertion evidence source_evidence_literature NP580547.RAGUr-sqL-taJELriox-9fW1yKJ8SG7TRh1_1zyWCKlN4130_provenance.
- NP580547.RAGUr-sqL-taJELriox-9fW1yKJ8SG7TRh1_1zyWCKlN4130_assertion SIO_000772 17121518 NP580547.RAGUr-sqL-taJELriox-9fW1yKJ8SG7TRh1_1zyWCKlN4130_provenance.
- NP580547.RAGUr-sqL-taJELriox-9fW1yKJ8SG7TRh1_1zyWCKlN4130_assertion wasDerivedFrom befree-2016 NP580547.RAGUr-sqL-taJELriox-9fW1yKJ8SG7TRh1_1zyWCKlN4130_provenance.
- NP580547.RAGUr-sqL-taJELriox-9fW1yKJ8SG7TRh1_1zyWCKlN4130_assertion wasGeneratedBy ECO_0000203 NP580547.RAGUr-sqL-taJELriox-9fW1yKJ8SG7TRh1_1zyWCKlN4130_provenance.