Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_assertion> ?p ?o ?g. }
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- NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_assertion type Assertion NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_head.
- NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_assertion description "[Although some degree of restriction of movements is not uncommon in fetuses with skeletal dysplasia, akinesia as leading sign is unusual and suggests that certain TRPV4 mutations produce both chondrodysplasia and a peripheral neuropathy resulting in a severe overlap phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_provenance.
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- NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_assertion wasDerivedFrom befree-2016 NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_provenance.
- NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_assertion wasGeneratedBy ECO_0000203 NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_provenance.