Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP394116.RAgkNhucTe3Jl38DJuqZ9ZFKgXqAg32EOMRmFAPNGh_VQ130_assertion> ?p ?o ?g. }
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- NP394116.RAgkNhucTe3Jl38DJuqZ9ZFKgXqAg32EOMRmFAPNGh_VQ130_assertion type Assertion NP394116.RAgkNhucTe3Jl38DJuqZ9ZFKgXqAg32EOMRmFAPNGh_VQ130_head.
- NP394116.RAgkNhucTe3Jl38DJuqZ9ZFKgXqAg32EOMRmFAPNGh_VQ130_assertion description "[In a 6-year-old girl, with Weber-Cockayne type EBS (WC-EBS) with palmoplantar blisters and moderate mental retardation, a novel V133L substitution was detected.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP394116.RAgkNhucTe3Jl38DJuqZ9ZFKgXqAg32EOMRmFAPNGh_VQ130_provenance.
- NP394116.RAgkNhucTe3Jl38DJuqZ9ZFKgXqAg32EOMRmFAPNGh_VQ130_assertion evidence source_evidence_literature NP394116.RAgkNhucTe3Jl38DJuqZ9ZFKgXqAg32EOMRmFAPNGh_VQ130_provenance.
- NP394116.RAgkNhucTe3Jl38DJuqZ9ZFKgXqAg32EOMRmFAPNGh_VQ130_assertion SIO_000772 14987259 NP394116.RAgkNhucTe3Jl38DJuqZ9ZFKgXqAg32EOMRmFAPNGh_VQ130_provenance.
- NP394116.RAgkNhucTe3Jl38DJuqZ9ZFKgXqAg32EOMRmFAPNGh_VQ130_assertion wasDerivedFrom befree-20140225 NP394116.RAgkNhucTe3Jl38DJuqZ9ZFKgXqAg32EOMRmFAPNGh_VQ130_provenance.
- NP394116.RAgkNhucTe3Jl38DJuqZ9ZFKgXqAg32EOMRmFAPNGh_VQ130_assertion wasGeneratedBy ECO_0000203 NP394116.RAgkNhucTe3Jl38DJuqZ9ZFKgXqAg32EOMRmFAPNGh_VQ130_provenance.