Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- NP569128.RAhoa5BKcXTiG96KTtRU8wqIaymSxrZpSdhpsvwz9v3NQ130_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." NP569128.RAhoa5BKcXTiG96KTtRU8wqIaymSxrZpSdhpsvwz9v3NQ130_provenance.