Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_assertion> ?p ?o ?g. }
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- NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_assertion type Assertion NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_head.
- NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_assertion description "[We examined 12 Japanese patients with metaphyseal chondrodysplasia (MCD) for mutations in the ribonuclease mitochondrial RNA processing gene (RMRP), and identified four novel mutations in two patients with typical and atypical cartilage-hair hypoplasia (CHH), a form of MCD characterized by extra-skeletal manifestations including hypoplastic hair and defective immunity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance.
- NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_assertion evidence source_evidence_literature NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance.
- NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_assertion SIO_000772 14608646 NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance.
- NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_assertion wasDerivedFrom befree-20150227 NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance.
- NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_assertion wasGeneratedBy ECO_0000203 NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance.