Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP400998.RAcJjh0m0sa2sHDmnW5Vwo-m1q73VXo-npsRjn5Mi7uBQ130_assertion> ?p ?o ?g. }
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- NP400998.RAcJjh0m0sa2sHDmnW5Vwo-m1q73VXo-npsRjn5Mi7uBQ130_assertion type Assertion NP400998.RAcJjh0m0sa2sHDmnW5Vwo-m1q73VXo-npsRjn5Mi7uBQ130_head.
- NP400998.RAcJjh0m0sa2sHDmnW5Vwo-m1q73VXo-npsRjn5Mi7uBQ130_assertion description "[Mutations in the type II collagen gene account for most spondyloepiphyseal dysplasia and spondyloepiphyseal dysplasia-like clinical disorders, whereas mutations in the fibroblast growth factor receptor 3 gene are responsible for achondroplasia, thanatophoric dysplasia, and hypochondroplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP400998.RAcJjh0m0sa2sHDmnW5Vwo-m1q73VXo-npsRjn5Mi7uBQ130_provenance.
- NP400998.RAcJjh0m0sa2sHDmnW5Vwo-m1q73VXo-npsRjn5Mi7uBQ130_assertion evidence source_evidence_literature NP400998.RAcJjh0m0sa2sHDmnW5Vwo-m1q73VXo-npsRjn5Mi7uBQ130_provenance.
- NP400998.RAcJjh0m0sa2sHDmnW5Vwo-m1q73VXo-npsRjn5Mi7uBQ130_assertion SIO_000772 8879993 NP400998.RAcJjh0m0sa2sHDmnW5Vwo-m1q73VXo-npsRjn5Mi7uBQ130_provenance.
- NP400998.RAcJjh0m0sa2sHDmnW5Vwo-m1q73VXo-npsRjn5Mi7uBQ130_assertion wasDerivedFrom befree-20150227 NP400998.RAcJjh0m0sa2sHDmnW5Vwo-m1q73VXo-npsRjn5Mi7uBQ130_provenance.
- NP400998.RAcJjh0m0sa2sHDmnW5Vwo-m1q73VXo-npsRjn5Mi7uBQ130_assertion wasGeneratedBy ECO_0000203 NP400998.RAcJjh0m0sa2sHDmnW5Vwo-m1q73VXo-npsRjn5Mi7uBQ130_provenance.