Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_assertion> ?p ?o ?g. }
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- NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_assertion type Assertion NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_head.
- NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_assertion wasGeneratedBy ECO_0000203 NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_provenance.
- NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_assertion wasDerivedFrom befree-2016 NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_provenance.
- NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_assertion SIO_000772 25146893 NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_provenance.
- NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_assertion evidence source_evidence_literature NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_provenance.
- NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_assertion description "[A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_provenance.