Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1112755.RAPuykKjzpOpvji4lPQPRIZkiv_w_ScHi2BNIY0XFpL0E130_assertion> ?p ?o ?g. }
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- NP1112755.RAPuykKjzpOpvji4lPQPRIZkiv_w_ScHi2BNIY0XFpL0E130_assertion type Assertion NP1112755.RAPuykKjzpOpvji4lPQPRIZkiv_w_ScHi2BNIY0XFpL0E130_head.
- NP1112755.RAPuykKjzpOpvji4lPQPRIZkiv_w_ScHi2BNIY0XFpL0E130_assertion description "[Haploinsufficiency of TCF4 causes Pitt-Hopkins syndrome (PTHS): a severe form of mental retardation with phenotypic similarities to Angelman, Mowat-Wilson and Rett syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1112755.RAPuykKjzpOpvji4lPQPRIZkiv_w_ScHi2BNIY0XFpL0E130_provenance.
- NP1112755.RAPuykKjzpOpvji4lPQPRIZkiv_w_ScHi2BNIY0XFpL0E130_assertion evidence source_evidence_literature NP1112755.RAPuykKjzpOpvji4lPQPRIZkiv_w_ScHi2BNIY0XFpL0E130_provenance.
- NP1112755.RAPuykKjzpOpvji4lPQPRIZkiv_w_ScHi2BNIY0XFpL0E130_assertion SIO_000772 24058414 NP1112755.RAPuykKjzpOpvji4lPQPRIZkiv_w_ScHi2BNIY0XFpL0E130_provenance.
- NP1112755.RAPuykKjzpOpvji4lPQPRIZkiv_w_ScHi2BNIY0XFpL0E130_assertion wasDerivedFrom befree-2016 NP1112755.RAPuykKjzpOpvji4lPQPRIZkiv_w_ScHi2BNIY0XFpL0E130_provenance.
- NP1112755.RAPuykKjzpOpvji4lPQPRIZkiv_w_ScHi2BNIY0XFpL0E130_assertion wasGeneratedBy ECO_0000203 NP1112755.RAPuykKjzpOpvji4lPQPRIZkiv_w_ScHi2BNIY0XFpL0E130_provenance.