Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP801345.RAzQthJ6mPn4dMA97Y_JoFEVgMdk8dwz_omM55CIwBefU130_assertion> ?p ?o ?g. }
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- NP801345.RAzQthJ6mPn4dMA97Y_JoFEVgMdk8dwz_omM55CIwBefU130_assertion type Assertion NP801345.RAzQthJ6mPn4dMA97Y_JoFEVgMdk8dwz_omM55CIwBefU130_head.
- NP801345.RAzQthJ6mPn4dMA97Y_JoFEVgMdk8dwz_omM55CIwBefU130_assertion description "[Deficiency of cathepsin K (CTSK), a lysosomal cysteine protease, has been shown earlier as a cause of an autosomal recessive osteosclerotic skeletal dysplasia pycnodysostosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP801345.RAzQthJ6mPn4dMA97Y_JoFEVgMdk8dwz_omM55CIwBefU130_provenance.
- NP801345.RAzQthJ6mPn4dMA97Y_JoFEVgMdk8dwz_omM55CIwBefU130_assertion evidence source_evidence_literature NP801345.RAzQthJ6mPn4dMA97Y_JoFEVgMdk8dwz_omM55CIwBefU130_provenance.
- NP801345.RAzQthJ6mPn4dMA97Y_JoFEVgMdk8dwz_omM55CIwBefU130_assertion SIO_000772 20305575 NP801345.RAzQthJ6mPn4dMA97Y_JoFEVgMdk8dwz_omM55CIwBefU130_provenance.
- NP801345.RAzQthJ6mPn4dMA97Y_JoFEVgMdk8dwz_omM55CIwBefU130_assertion wasDerivedFrom befree-2016 NP801345.RAzQthJ6mPn4dMA97Y_JoFEVgMdk8dwz_omM55CIwBefU130_provenance.
- NP801345.RAzQthJ6mPn4dMA97Y_JoFEVgMdk8dwz_omM55CIwBefU130_assertion wasGeneratedBy ECO_0000203 NP801345.RAzQthJ6mPn4dMA97Y_JoFEVgMdk8dwz_omM55CIwBefU130_provenance.