Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP346253.RAcsIbMkvmzjdKvd-GR5dOz39LhZUFu-6sma9FlAk3vT4130_assertion> ?p ?o ?g. }
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- NP346253.RAcsIbMkvmzjdKvd-GR5dOz39LhZUFu-6sma9FlAk3vT4130_assertion type Assertion NP346253.RAcsIbMkvmzjdKvd-GR5dOz39LhZUFu-6sma9FlAk3vT4130_head.
- NP346253.RAcsIbMkvmzjdKvd-GR5dOz39LhZUFu-6sma9FlAk3vT4130_assertion description "[The SMADIP1 gene recently has been recognized as disease causing in some patients with 2q22 chromosomal rearrangement, resulting in syndromic HSCR with mental retardation, with microcephaly, and with facial dysmorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP346253.RAcsIbMkvmzjdKvd-GR5dOz39LhZUFu-6sma9FlAk3vT4130_provenance.
- NP346253.RAcsIbMkvmzjdKvd-GR5dOz39LhZUFu-6sma9FlAk3vT4130_assertion evidence source_evidence_literature NP346253.RAcsIbMkvmzjdKvd-GR5dOz39LhZUFu-6sma9FlAk3vT4130_provenance.
- NP346253.RAcsIbMkvmzjdKvd-GR5dOz39LhZUFu-6sma9FlAk3vT4130_assertion SIO_000772 11595972 NP346253.RAcsIbMkvmzjdKvd-GR5dOz39LhZUFu-6sma9FlAk3vT4130_provenance.
- NP346253.RAcsIbMkvmzjdKvd-GR5dOz39LhZUFu-6sma9FlAk3vT4130_assertion wasDerivedFrom befree-20140225 NP346253.RAcsIbMkvmzjdKvd-GR5dOz39LhZUFu-6sma9FlAk3vT4130_provenance.
- NP346253.RAcsIbMkvmzjdKvd-GR5dOz39LhZUFu-6sma9FlAk3vT4130_assertion wasGeneratedBy ECO_0000203 NP346253.RAcsIbMkvmzjdKvd-GR5dOz39LhZUFu-6sma9FlAk3vT4130_provenance.