Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP872431.RABiKp_9KBAm_TvWEYs1tRgvWZsrUuMXix36su8NYhWnI130_assertion> ?p ?o ?g. }
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- NP872431.RABiKp_9KBAm_TvWEYs1tRgvWZsrUuMXix36su8NYhWnI130_assertion type Assertion NP872431.RABiKp_9KBAm_TvWEYs1tRgvWZsrUuMXix36su8NYhWnI130_head.
- NP872431.RABiKp_9KBAm_TvWEYs1tRgvWZsrUuMXix36su8NYhWnI130_assertion wasGeneratedBy ECO_0000203 NP872431.RABiKp_9KBAm_TvWEYs1tRgvWZsrUuMXix36su8NYhWnI130_provenance.
- NP872431.RABiKp_9KBAm_TvWEYs1tRgvWZsrUuMXix36su8NYhWnI130_assertion wasDerivedFrom befree-20150227 NP872431.RABiKp_9KBAm_TvWEYs1tRgvWZsrUuMXix36su8NYhWnI130_provenance.
- NP872431.RABiKp_9KBAm_TvWEYs1tRgvWZsrUuMXix36su8NYhWnI130_assertion SIO_000772 19723756 NP872431.RABiKp_9KBAm_TvWEYs1tRgvWZsrUuMXix36su8NYhWnI130_provenance.
- NP872431.RABiKp_9KBAm_TvWEYs1tRgvWZsrUuMXix36su8NYhWnI130_assertion evidence source_evidence_literature NP872431.RABiKp_9KBAm_TvWEYs1tRgvWZsrUuMXix36su8NYhWnI130_provenance.
- NP872431.RABiKp_9KBAm_TvWEYs1tRgvWZsrUuMXix36su8NYhWnI130_assertion description "[A novel missense HDR-associated GATA3 mutation, Thr272Ile, has been identified and shown to result in reduced DNA binding, a partial loss of FOG2 interaction, and a decrease in gene transcription.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP872431.RABiKp_9KBAm_TvWEYs1tRgvWZsrUuMXix36su8NYhWnI130_provenance.