Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP283607.RAyR0lZtjnJrY4Z-ebZ0hdCbSypiwrIANOmWIK52r8eKU130_assertion> ?p ?o ?g. }
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- NP283607.RAyR0lZtjnJrY4Z-ebZ0hdCbSypiwrIANOmWIK52r8eKU130_assertion type Assertion NP283607.RAyR0lZtjnJrY4Z-ebZ0hdCbSypiwrIANOmWIK52r8eKU130_head.
- NP283607.RAyR0lZtjnJrY4Z-ebZ0hdCbSypiwrIANOmWIK52r8eKU130_assertion description "[The disease marble brain syndrome (MBS), known also as carbonic anhydrase II deficiency syndrome (CADS), can manifest in carriers of point mutations in the human carbonic anhydrase II (HCA II) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP283607.RAyR0lZtjnJrY4Z-ebZ0hdCbSypiwrIANOmWIK52r8eKU130_provenance.
- NP283607.RAyR0lZtjnJrY4Z-ebZ0hdCbSypiwrIANOmWIK52r8eKU130_assertion evidence source_evidence_literature NP283607.RAyR0lZtjnJrY4Z-ebZ0hdCbSypiwrIANOmWIK52r8eKU130_provenance.
- NP283607.RAyR0lZtjnJrY4Z-ebZ0hdCbSypiwrIANOmWIK52r8eKU130_assertion SIO_000772 15327960 NP283607.RAyR0lZtjnJrY4Z-ebZ0hdCbSypiwrIANOmWIK52r8eKU130_provenance.
- NP283607.RAyR0lZtjnJrY4Z-ebZ0hdCbSypiwrIANOmWIK52r8eKU130_assertion wasDerivedFrom befree-20140225 NP283607.RAyR0lZtjnJrY4Z-ebZ0hdCbSypiwrIANOmWIK52r8eKU130_provenance.
- NP283607.RAyR0lZtjnJrY4Z-ebZ0hdCbSypiwrIANOmWIK52r8eKU130_assertion wasGeneratedBy ECO_0000203 NP283607.RAyR0lZtjnJrY4Z-ebZ0hdCbSypiwrIANOmWIK52r8eKU130_provenance.