Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP320457.RA8eS3RrppuAIMEzNxvS34JFJH39EE4D6TVpZCASe35iE130_assertion> ?p ?o ?g. }
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- NP320457.RA8eS3RrppuAIMEzNxvS34JFJH39EE4D6TVpZCASe35iE130_assertion type Assertion NP320457.RA8eS3RrppuAIMEzNxvS34JFJH39EE4D6TVpZCASe35iE130_head.
- NP320457.RA8eS3RrppuAIMEzNxvS34JFJH39EE4D6TVpZCASe35iE130_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." NP320457.RA8eS3RrppuAIMEzNxvS34JFJH39EE4D6TVpZCASe35iE130_provenance.
- NP320457.RA8eS3RrppuAIMEzNxvS34JFJH39EE4D6TVpZCASe35iE130_assertion evidence source_evidence_literature NP320457.RA8eS3RrppuAIMEzNxvS34JFJH39EE4D6TVpZCASe35iE130_provenance.
- NP320457.RA8eS3RrppuAIMEzNxvS34JFJH39EE4D6TVpZCASe35iE130_assertion SIO_000772 9284109 NP320457.RA8eS3RrppuAIMEzNxvS34JFJH39EE4D6TVpZCASe35iE130_provenance.
- NP320457.RA8eS3RrppuAIMEzNxvS34JFJH39EE4D6TVpZCASe35iE130_assertion wasDerivedFrom befree-20150227 NP320457.RA8eS3RrppuAIMEzNxvS34JFJH39EE4D6TVpZCASe35iE130_provenance.
- NP320457.RA8eS3RrppuAIMEzNxvS34JFJH39EE4D6TVpZCASe35iE130_assertion wasGeneratedBy ECO_0000203 NP320457.RA8eS3RrppuAIMEzNxvS34JFJH39EE4D6TVpZCASe35iE130_provenance.