Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1238765.RAXuIqqKkNOA6STFZ4j2QQD5NKwQH-R_XjaF7RM4cfxuE130_assertion> ?p ?o ?g. }
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- NP1238765.RAXuIqqKkNOA6STFZ4j2QQD5NKwQH-R_XjaF7RM4cfxuE130_assertion type Assertion NP1238765.RAXuIqqKkNOA6STFZ4j2QQD5NKwQH-R_XjaF7RM4cfxuE130_head.
- NP1238765.RAXuIqqKkNOA6STFZ4j2QQD5NKwQH-R_XjaF7RM4cfxuE130_assertion description "[In the GHI groups, two homozygous OBSL1 mutations were also identified (height SDS -4.9 and -5.7) and two patients had hypomethylation in imprinting control region 1 in 11p15 or mUPD7 consistent with Silver-Russell syndrome (SRS) (height SDS -3.7 and -4.3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1238765.RAXuIqqKkNOA6STFZ4j2QQD5NKwQH-R_XjaF7RM4cfxuE130_provenance.
- NP1238765.RAXuIqqKkNOA6STFZ4j2QQD5NKwQH-R_XjaF7RM4cfxuE130_assertion evidence source_evidence_literature NP1238765.RAXuIqqKkNOA6STFZ4j2QQD5NKwQH-R_XjaF7RM4cfxuE130_provenance.
- NP1238765.RAXuIqqKkNOA6STFZ4j2QQD5NKwQH-R_XjaF7RM4cfxuE130_assertion SIO_000772 25411237 NP1238765.RAXuIqqKkNOA6STFZ4j2QQD5NKwQH-R_XjaF7RM4cfxuE130_provenance.
- NP1238765.RAXuIqqKkNOA6STFZ4j2QQD5NKwQH-R_XjaF7RM4cfxuE130_assertion wasDerivedFrom befree-2016 NP1238765.RAXuIqqKkNOA6STFZ4j2QQD5NKwQH-R_XjaF7RM4cfxuE130_provenance.
- NP1238765.RAXuIqqKkNOA6STFZ4j2QQD5NKwQH-R_XjaF7RM4cfxuE130_assertion wasGeneratedBy ECO_0000203 NP1238765.RAXuIqqKkNOA6STFZ4j2QQD5NKwQH-R_XjaF7RM4cfxuE130_provenance.