Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP398067.RAyA3ojItjfUEI_W_7P6q3FuwvoCjH1-abc9_p2a4LZRA130_assertion> ?p ?o ?g. }
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- NP398067.RAyA3ojItjfUEI_W_7P6q3FuwvoCjH1-abc9_p2a4LZRA130_assertion type Assertion NP398067.RAyA3ojItjfUEI_W_7P6q3FuwvoCjH1-abc9_p2a4LZRA130_head.
- NP398067.RAyA3ojItjfUEI_W_7P6q3FuwvoCjH1-abc9_p2a4LZRA130_assertion description "[In this study, a young boy with afibrinogenemia was found to be a compound heterozygote for 2 mutations in FGB: an N-terminal nonsense mutation W47X (exon 2) and a missense mutation (G444S, exon 8).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP398067.RAyA3ojItjfUEI_W_7P6q3FuwvoCjH1-abc9_p2a4LZRA130_provenance.
- NP398067.RAyA3ojItjfUEI_W_7P6q3FuwvoCjH1-abc9_p2a4LZRA130_assertion evidence source_evidence_literature NP398067.RAyA3ojItjfUEI_W_7P6q3FuwvoCjH1-abc9_p2a4LZRA130_provenance.
- NP398067.RAyA3ojItjfUEI_W_7P6q3FuwvoCjH1-abc9_p2a4LZRA130_assertion SIO_000772 12893758 NP398067.RAyA3ojItjfUEI_W_7P6q3FuwvoCjH1-abc9_p2a4LZRA130_provenance.
- NP398067.RAyA3ojItjfUEI_W_7P6q3FuwvoCjH1-abc9_p2a4LZRA130_assertion wasDerivedFrom befree-20150227 NP398067.RAyA3ojItjfUEI_W_7P6q3FuwvoCjH1-abc9_p2a4LZRA130_provenance.
- NP398067.RAyA3ojItjfUEI_W_7P6q3FuwvoCjH1-abc9_p2a4LZRA130_assertion wasGeneratedBy ECO_0000203 NP398067.RAyA3ojItjfUEI_W_7P6q3FuwvoCjH1-abc9_p2a4LZRA130_provenance.