Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP985063.RAvs6z89WNXOS4Eso705qGdMq8FN50YMPLCtDqIfBGRKE130_assertion> ?p ?o ?g. }
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- NP985063.RAvs6z89WNXOS4Eso705qGdMq8FN50YMPLCtDqIfBGRKE130_assertion type Assertion NP985063.RAvs6z89WNXOS4Eso705qGdMq8FN50YMPLCtDqIfBGRKE130_head.
- NP985063.RAvs6z89WNXOS4Eso705qGdMq8FN50YMPLCtDqIfBGRKE130_assertion description "[A new case of familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) due to a novel compound heterozygous mutation in N-acetylgalactosaminyltransferase 3 (GALNT3) and with new phenotypic findings is presented.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP985063.RAvs6z89WNXOS4Eso705qGdMq8FN50YMPLCtDqIfBGRKE130_provenance.
- NP985063.RAvs6z89WNXOS4Eso705qGdMq8FN50YMPLCtDqIfBGRKE130_assertion evidence source_evidence_literature NP985063.RAvs6z89WNXOS4Eso705qGdMq8FN50YMPLCtDqIfBGRKE130_provenance.
- NP985063.RAvs6z89WNXOS4Eso705qGdMq8FN50YMPLCtDqIfBGRKE130_assertion SIO_000772 18982401 NP985063.RAvs6z89WNXOS4Eso705qGdMq8FN50YMPLCtDqIfBGRKE130_provenance.
- NP985063.RAvs6z89WNXOS4Eso705qGdMq8FN50YMPLCtDqIfBGRKE130_assertion wasDerivedFrom befree-20150227 NP985063.RAvs6z89WNXOS4Eso705qGdMq8FN50YMPLCtDqIfBGRKE130_provenance.
- NP985063.RAvs6z89WNXOS4Eso705qGdMq8FN50YMPLCtDqIfBGRKE130_assertion wasGeneratedBy ECO_0000203 NP985063.RAvs6z89WNXOS4Eso705qGdMq8FN50YMPLCtDqIfBGRKE130_provenance.