Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP292605.RAxHk9YoAMkG-v-JeOPHlwOwWC1BIDxZZDq439AK4oKsw130_assertion> ?p ?o ?g. }
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- NP292605.RAxHk9YoAMkG-v-JeOPHlwOwWC1BIDxZZDq439AK4oKsw130_assertion type Assertion NP292605.RAxHk9YoAMkG-v-JeOPHlwOwWC1BIDxZZDq439AK4oKsw130_head.
- 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.
- NP292605.RAxHk9YoAMkG-v-JeOPHlwOwWC1BIDxZZDq439AK4oKsw130_assertion evidence source_evidence_literature NP292605.RAxHk9YoAMkG-v-JeOPHlwOwWC1BIDxZZDq439AK4oKsw130_provenance.
- NP292605.RAxHk9YoAMkG-v-JeOPHlwOwWC1BIDxZZDq439AK4oKsw130_assertion SIO_000772 10951251 NP292605.RAxHk9YoAMkG-v-JeOPHlwOwWC1BIDxZZDq439AK4oKsw130_provenance.
- NP292605.RAxHk9YoAMkG-v-JeOPHlwOwWC1BIDxZZDq439AK4oKsw130_assertion wasDerivedFrom befree-2016 NP292605.RAxHk9YoAMkG-v-JeOPHlwOwWC1BIDxZZDq439AK4oKsw130_provenance.
- NP292605.RAxHk9YoAMkG-v-JeOPHlwOwWC1BIDxZZDq439AK4oKsw130_assertion wasGeneratedBy ECO_0000203 NP292605.RAxHk9YoAMkG-v-JeOPHlwOwWC1BIDxZZDq439AK4oKsw130_provenance.