Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP419252.RA-iAAj_cTjALW2HMmwTTwo2Ggi6238vlP_69jkwmMcyQ130_assertion> ?p ?o ?g. }
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- NP419252.RA-iAAj_cTjALW2HMmwTTwo2Ggi6238vlP_69jkwmMcyQ130_assertion type Assertion NP419252.RA-iAAj_cTjALW2HMmwTTwo2Ggi6238vlP_69jkwmMcyQ130_head.
- NP419252.RA-iAAj_cTjALW2HMmwTTwo2Ggi6238vlP_69jkwmMcyQ130_assertion description "[Investigation for GATA3 mutations in three other HDR probands identified one nonsense mutation and two intragenic deletions that predicted a loss of function, as confirmed by absence of DNA binding by the mutant GATA3 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP419252.RA-iAAj_cTjALW2HMmwTTwo2Ggi6238vlP_69jkwmMcyQ130_provenance.
- NP419252.RA-iAAj_cTjALW2HMmwTTwo2Ggi6238vlP_69jkwmMcyQ130_assertion evidence source_evidence_literature NP419252.RA-iAAj_cTjALW2HMmwTTwo2Ggi6238vlP_69jkwmMcyQ130_provenance.
- NP419252.RA-iAAj_cTjALW2HMmwTTwo2Ggi6238vlP_69jkwmMcyQ130_assertion SIO_000772 10935639 NP419252.RA-iAAj_cTjALW2HMmwTTwo2Ggi6238vlP_69jkwmMcyQ130_provenance.
- NP419252.RA-iAAj_cTjALW2HMmwTTwo2Ggi6238vlP_69jkwmMcyQ130_assertion wasDerivedFrom befree-20150227 NP419252.RA-iAAj_cTjALW2HMmwTTwo2Ggi6238vlP_69jkwmMcyQ130_provenance.
- NP419252.RA-iAAj_cTjALW2HMmwTTwo2Ggi6238vlP_69jkwmMcyQ130_assertion wasGeneratedBy ECO_0000203 NP419252.RA-iAAj_cTjALW2HMmwTTwo2Ggi6238vlP_69jkwmMcyQ130_provenance.