Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP886622.RAuujGbtcg-W7EAID4oxttQX7k8dDdz_zuCHiTdaPF1RM130_assertion> ?p ?o ?g. }
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- NP886622.RAuujGbtcg-W7EAID4oxttQX7k8dDdz_zuCHiTdaPF1RM130_assertion type Assertion NP886622.RAuujGbtcg-W7EAID4oxttQX7k8dDdz_zuCHiTdaPF1RM130_head.
- NP886622.RAuujGbtcg-W7EAID4oxttQX7k8dDdz_zuCHiTdaPF1RM130_assertion description "[A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP886622.RAuujGbtcg-W7EAID4oxttQX7k8dDdz_zuCHiTdaPF1RM130_provenance.
- NP886622.RAuujGbtcg-W7EAID4oxttQX7k8dDdz_zuCHiTdaPF1RM130_assertion evidence source_evidence_literature NP886622.RAuujGbtcg-W7EAID4oxttQX7k8dDdz_zuCHiTdaPF1RM130_provenance.
- NP886622.RAuujGbtcg-W7EAID4oxttQX7k8dDdz_zuCHiTdaPF1RM130_assertion SIO_000772 21487377 NP886622.RAuujGbtcg-W7EAID4oxttQX7k8dDdz_zuCHiTdaPF1RM130_provenance.
- NP886622.RAuujGbtcg-W7EAID4oxttQX7k8dDdz_zuCHiTdaPF1RM130_assertion wasDerivedFrom befree-2016 NP886622.RAuujGbtcg-W7EAID4oxttQX7k8dDdz_zuCHiTdaPF1RM130_provenance.
- NP886622.RAuujGbtcg-W7EAID4oxttQX7k8dDdz_zuCHiTdaPF1RM130_assertion wasGeneratedBy ECO_0000203 NP886622.RAuujGbtcg-W7EAID4oxttQX7k8dDdz_zuCHiTdaPF1RM130_provenance.