Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1296125.RAEL_YN_mrEyzQa_7ZwrzFlNTHpY-7Qsd38ILt5r-xC5E130_assertion> ?p ?o ?g. }
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- NP1296125.RAEL_YN_mrEyzQa_7ZwrzFlNTHpY-7Qsd38ILt5r-xC5E130_assertion type Assertion NP1296125.RAEL_YN_mrEyzQa_7ZwrzFlNTHpY-7Qsd38ILt5r-xC5E130_head.
- NP1296125.RAEL_YN_mrEyzQa_7ZwrzFlNTHpY-7Qsd38ILt5r-xC5E130_assertion description "[Starch gel electrophoretic analysis of fibroblasts from 15 patients with late onset glycogen storage disease type II (GSDII) failed to reveal either homozygotes or heterozygotes for the GAA*2 allele (GAA2-2 or GAA2-0) providing evidence that neither of these genotypes lead to late onset GSDII despite the impaired activity of the enzyme towards glycogen.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1296125.RAEL_YN_mrEyzQa_7ZwrzFlNTHpY-7Qsd38ILt5r-xC5E130_provenance.
- NP1296125.RAEL_YN_mrEyzQa_7ZwrzFlNTHpY-7Qsd38ILt5r-xC5E130_assertion evidence source_evidence_literature NP1296125.RAEL_YN_mrEyzQa_7ZwrzFlNTHpY-7Qsd38ILt5r-xC5E130_provenance.
- NP1296125.RAEL_YN_mrEyzQa_7ZwrzFlNTHpY-7Qsd38ILt5r-xC5E130_assertion SIO_000772 2688539 NP1296125.RAEL_YN_mrEyzQa_7ZwrzFlNTHpY-7Qsd38ILt5r-xC5E130_provenance.
- NP1296125.RAEL_YN_mrEyzQa_7ZwrzFlNTHpY-7Qsd38ILt5r-xC5E130_assertion wasDerivedFrom befree-2016 NP1296125.RAEL_YN_mrEyzQa_7ZwrzFlNTHpY-7Qsd38ILt5r-xC5E130_provenance.
- NP1296125.RAEL_YN_mrEyzQa_7ZwrzFlNTHpY-7Qsd38ILt5r-xC5E130_assertion wasGeneratedBy ECO_0000203 NP1296125.RAEL_YN_mrEyzQa_7ZwrzFlNTHpY-7Qsd38ILt5r-xC5E130_provenance.