Matches in Nanopublications for { ?s ?p "[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_assertion description "[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_provenance.
- NP466242.RAB_pWz4e4i5M6POtNuPOyFrGbayJtaT4J-8mNa28WzsM130_assertion description "[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP466242.RAB_pWz4e4i5M6POtNuPOyFrGbayJtaT4J-8mNa28WzsM130_provenance.
- NP530905.RAVyy3-94budP-XAsSSLPG7OG_NoncXxeVlrMD45TMr1g130_assertion description "[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP530905.RAVyy3-94budP-XAsSSLPG7OG_NoncXxeVlrMD45TMr1g130_provenance.
- assertion description "[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_assertion description "[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_provenance.
- NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_assertion description "[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_provenance.
- NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_assertion description "[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_provenance.
- NP292605.RAxHk9YoAMkG-v-JeOPHlwOwWC1BIDxZZDq439AK4oKsw130_assertion description "[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP292605.RAxHk9YoAMkG-v-JeOPHlwOwWC1BIDxZZDq439AK4oKsw130_provenance.