Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP974520.RAXVOMMHhfzMZhKRWyv-LSocaon_tBlMC26dAKvIqPX0E130_assertion> ?p ?o ?g. }
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- NP974520.RAXVOMMHhfzMZhKRWyv-LSocaon_tBlMC26dAKvIqPX0E130_assertion type Assertion NP974520.RAXVOMMHhfzMZhKRWyv-LSocaon_tBlMC26dAKvIqPX0E130_head.
- NP974520.RAXVOMMHhfzMZhKRWyv-LSocaon_tBlMC26dAKvIqPX0E130_assertion description "[In the LWD+ group, MLPA analysis detected nine deletions in PAR1 region, with a deleterious effect on SHOX, first reported case of isolated SHOX enhancer duplication, and SHOX mutation (68.8%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP974520.RAXVOMMHhfzMZhKRWyv-LSocaon_tBlMC26dAKvIqPX0E130_provenance.
- NP974520.RAXVOMMHhfzMZhKRWyv-LSocaon_tBlMC26dAKvIqPX0E130_assertion evidence source_evidence_literature NP974520.RAXVOMMHhfzMZhKRWyv-LSocaon_tBlMC26dAKvIqPX0E130_provenance.
- NP974520.RAXVOMMHhfzMZhKRWyv-LSocaon_tBlMC26dAKvIqPX0E130_assertion SIO_000772 22020182 NP974520.RAXVOMMHhfzMZhKRWyv-LSocaon_tBlMC26dAKvIqPX0E130_provenance.
- NP974520.RAXVOMMHhfzMZhKRWyv-LSocaon_tBlMC26dAKvIqPX0E130_assertion wasDerivedFrom befree-20150227 NP974520.RAXVOMMHhfzMZhKRWyv-LSocaon_tBlMC26dAKvIqPX0E130_provenance.
- NP974520.RAXVOMMHhfzMZhKRWyv-LSocaon_tBlMC26dAKvIqPX0E130_assertion wasGeneratedBy ECO_0000203 NP974520.RAXVOMMHhfzMZhKRWyv-LSocaon_tBlMC26dAKvIqPX0E130_provenance.