Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP708376.RAXcRhw8oSf68hgvl6258FN0-NuVJ_hQXhO_gYchLbYxY130_assertion> ?p ?o ?g. }
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- NP708376.RAXcRhw8oSf68hgvl6258FN0-NuVJ_hQXhO_gYchLbYxY130_assertion type Assertion NP708376.RAXcRhw8oSf68hgvl6258FN0-NuVJ_hQXhO_gYchLbYxY130_head.
- NP708376.RAXcRhw8oSf68hgvl6258FN0-NuVJ_hQXhO_gYchLbYxY130_assertion description "[Both overdosage of SOX3, as a result of gene duplication, and loss of function resulting from expansion of the first polyalanine (PA) tract are associated with variable degrees of hypopituitarism, with or without mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP708376.RAXcRhw8oSf68hgvl6258FN0-NuVJ_hQXhO_gYchLbYxY130_provenance.
- NP708376.RAXcRhw8oSf68hgvl6258FN0-NuVJ_hQXhO_gYchLbYxY130_assertion evidence source_evidence_literature NP708376.RAXcRhw8oSf68hgvl6258FN0-NuVJ_hQXhO_gYchLbYxY130_provenance.
- NP708376.RAXcRhw8oSf68hgvl6258FN0-NuVJ_hQXhO_gYchLbYxY130_assertion SIO_000772 21289259 NP708376.RAXcRhw8oSf68hgvl6258FN0-NuVJ_hQXhO_gYchLbYxY130_provenance.
- NP708376.RAXcRhw8oSf68hgvl6258FN0-NuVJ_hQXhO_gYchLbYxY130_assertion wasDerivedFrom befree-20150227 NP708376.RAXcRhw8oSf68hgvl6258FN0-NuVJ_hQXhO_gYchLbYxY130_provenance.
- NP708376.RAXcRhw8oSf68hgvl6258FN0-NuVJ_hQXhO_gYchLbYxY130_assertion wasGeneratedBy ECO_0000203 NP708376.RAXcRhw8oSf68hgvl6258FN0-NuVJ_hQXhO_gYchLbYxY130_provenance.