Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP925363.RAB0l9XKXDL3DHrkGyjBcPVnESus4MRnjlpfWr8qB7uZw130_assertion> ?p ?o ?g. }
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- NP925363.RAB0l9XKXDL3DHrkGyjBcPVnESus4MRnjlpfWr8qB7uZw130_assertion type Assertion NP925363.RAB0l9XKXDL3DHrkGyjBcPVnESus4MRnjlpfWr8qB7uZw130_head.
- NP925363.RAB0l9XKXDL3DHrkGyjBcPVnESus4MRnjlpfWr8qB7uZw130_assertion description "[Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and propensity to skin cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP925363.RAB0l9XKXDL3DHrkGyjBcPVnESus4MRnjlpfWr8qB7uZw130_provenance.
- NP925363.RAB0l9XKXDL3DHrkGyjBcPVnESus4MRnjlpfWr8qB7uZw130_assertion evidence source_evidence_literature NP925363.RAB0l9XKXDL3DHrkGyjBcPVnESus4MRnjlpfWr8qB7uZw130_provenance.
- NP925363.RAB0l9XKXDL3DHrkGyjBcPVnESus4MRnjlpfWr8qB7uZw130_assertion SIO_000772 21936020 NP925363.RAB0l9XKXDL3DHrkGyjBcPVnESus4MRnjlpfWr8qB7uZw130_provenance.
- NP925363.RAB0l9XKXDL3DHrkGyjBcPVnESus4MRnjlpfWr8qB7uZw130_assertion wasDerivedFrom befree-2016 NP925363.RAB0l9XKXDL3DHrkGyjBcPVnESus4MRnjlpfWr8qB7uZw130_provenance.
- NP925363.RAB0l9XKXDL3DHrkGyjBcPVnESus4MRnjlpfWr8qB7uZw130_assertion wasGeneratedBy ECO_0000203 NP925363.RAB0l9XKXDL3DHrkGyjBcPVnESus4MRnjlpfWr8qB7uZw130_provenance.