Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_assertion> ?p ?o ?g. }
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- NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_assertion type Assertion NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_head.
- NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_assertion description "[The clinically unaffected parents were heterozygous for the mutations, suggesting that both COL7A1 gene defects were recessively inherited disease-causing mutations that are 'silent' in heterozygous carriers but in combination can severely interfere with the dermal-epidermal adhesion and lead to severe EBD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance.
- NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_assertion evidence source_evidence_literature NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance.
- NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_assertion SIO_000772 9284109 NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance.
- NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_assertion wasDerivedFrom befree-20150227 NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance.
- NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_assertion wasGeneratedBy ECO_0000203 NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance.