Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP725741.RA6FXzxd5oSTI_q7Nsgh_08K7WdAlBANUPlUONaMFN9tw130_assertion> ?p ?o ?g. }
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- NP725741.RA6FXzxd5oSTI_q7Nsgh_08K7WdAlBANUPlUONaMFN9tw130_assertion type Assertion NP725741.RA6FXzxd5oSTI_q7Nsgh_08K7WdAlBANUPlUONaMFN9tw130_head.
- NP725741.RA6FXzxd5oSTI_q7Nsgh_08K7WdAlBANUPlUONaMFN9tw130_assertion description "[Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP725741.RA6FXzxd5oSTI_q7Nsgh_08K7WdAlBANUPlUONaMFN9tw130_provenance.
- NP725741.RA6FXzxd5oSTI_q7Nsgh_08K7WdAlBANUPlUONaMFN9tw130_assertion evidence source_evidence_literature NP725741.RA6FXzxd5oSTI_q7Nsgh_08K7WdAlBANUPlUONaMFN9tw130_provenance.
- NP725741.RA6FXzxd5oSTI_q7Nsgh_08K7WdAlBANUPlUONaMFN9tw130_assertion SIO_000772 17478476 NP725741.RA6FXzxd5oSTI_q7Nsgh_08K7WdAlBANUPlUONaMFN9tw130_provenance.
- NP725741.RA6FXzxd5oSTI_q7Nsgh_08K7WdAlBANUPlUONaMFN9tw130_assertion wasDerivedFrom befree-20150227 NP725741.RA6FXzxd5oSTI_q7Nsgh_08K7WdAlBANUPlUONaMFN9tw130_provenance.
- NP725741.RA6FXzxd5oSTI_q7Nsgh_08K7WdAlBANUPlUONaMFN9tw130_assertion wasGeneratedBy ECO_0000203 NP725741.RA6FXzxd5oSTI_q7Nsgh_08K7WdAlBANUPlUONaMFN9tw130_provenance.