Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP347836.RADsFwzRYzy41zLU24OHCpyjdFiEI9zJnymOnjTHZLM0U130_assertion> ?p ?o ?g. }
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- NP347836.RADsFwzRYzy41zLU24OHCpyjdFiEI9zJnymOnjTHZLM0U130_assertion type Assertion NP347836.RADsFwzRYzy41zLU24OHCpyjdFiEI9zJnymOnjTHZLM0U130_head.
- NP347836.RADsFwzRYzy41zLU24OHCpyjdFiEI9zJnymOnjTHZLM0U130_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." NP347836.RADsFwzRYzy41zLU24OHCpyjdFiEI9zJnymOnjTHZLM0U130_provenance.
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- NP347836.RADsFwzRYzy41zLU24OHCpyjdFiEI9zJnymOnjTHZLM0U130_assertion SIO_000772 14608646 NP347836.RADsFwzRYzy41zLU24OHCpyjdFiEI9zJnymOnjTHZLM0U130_provenance.
- NP347836.RADsFwzRYzy41zLU24OHCpyjdFiEI9zJnymOnjTHZLM0U130_assertion wasDerivedFrom befree-20140225 NP347836.RADsFwzRYzy41zLU24OHCpyjdFiEI9zJnymOnjTHZLM0U130_provenance.
- NP347836.RADsFwzRYzy41zLU24OHCpyjdFiEI9zJnymOnjTHZLM0U130_assertion wasGeneratedBy ECO_0000203 NP347836.RADsFwzRYzy41zLU24OHCpyjdFiEI9zJnymOnjTHZLM0U130_provenance.