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- source_evidence_literature type ECO_0000212 NP342738.RApmZW-2U-Kg8CU1h5Z8-LP3CyO4JFh2RM3wcBc3E_Tbs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP342738.RApmZW-2U-Kg8CU1h5Z8-LP3CyO4JFh2RM3wcBc3E_Tbs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP342738.RApmZW-2U-Kg8CU1h5Z8-LP3CyO4JFh2RM3wcBc3E_Tbs130_provenance.
- NP342738.RApmZW-2U-Kg8CU1h5Z8-LP3CyO4JFh2RM3wcBc3E_Tbs130_assertion wasGeneratedBy ECO_0000203 NP342738.RApmZW-2U-Kg8CU1h5Z8-LP3CyO4JFh2RM3wcBc3E_Tbs130_provenance.
- NP342738.RApmZW-2U-Kg8CU1h5Z8-LP3CyO4JFh2RM3wcBc3E_Tbs130_assertion wasDerivedFrom befree-20140225 NP342738.RApmZW-2U-Kg8CU1h5Z8-LP3CyO4JFh2RM3wcBc3E_Tbs130_provenance.
- NP342738.RApmZW-2U-Kg8CU1h5Z8-LP3CyO4JFh2RM3wcBc3E_Tbs130_assertion SIO_000772 22678594 NP342738.RApmZW-2U-Kg8CU1h5Z8-LP3CyO4JFh2RM3wcBc3E_Tbs130_provenance.
- NP342738.RApmZW-2U-Kg8CU1h5Z8-LP3CyO4JFh2RM3wcBc3E_Tbs130_assertion evidence source_evidence_literature NP342738.RApmZW-2U-Kg8CU1h5Z8-LP3CyO4JFh2RM3wcBc3E_Tbs130_provenance.
- NP342738.RApmZW-2U-Kg8CU1h5Z8-LP3CyO4JFh2RM3wcBc3E_Tbs130_assertion description "[By evaluating clinical features of patients with a proven TCF4 mutation with those of patients without, we noticed that, in addition to the typical facial gestalt, the PTHS phenotype results from the various combination of the following characteristics: ID with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing abnormalities, motor incoordination, ocular anomalies, constipation, seizures, typical behavior, and subtle brain abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP342738.RApmZW-2U-Kg8CU1h5Z8-LP3CyO4JFh2RM3wcBc3E_Tbs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP342738.RApmZW-2U-Kg8CU1h5Z8-LP3CyO4JFh2RM3wcBc3E_Tbs130_provenance.