Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1127141.RAB4nBkH159d3sheQoj9NvdRB1sfG1m4x7SJC7W8s6J1Q#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 25146893 provenance.
- assertion evidence source_evidence_literature provenance.
- 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." provenance.