Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP642302.RAZXu5i2ENy4SQ-ud_j5ZNVNZgqfo99PsMaaxMzwSXcBM130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP642302.RAZXu5i2ENy4SQ-ud_j5ZNVNZgqfo99PsMaaxMzwSXcBM130_assertion type Assertion NP642302.RAZXu5i2ENy4SQ-ud_j5ZNVNZgqfo99PsMaaxMzwSXcBM130_head.
- NP642302.RAZXu5i2ENy4SQ-ud_j5ZNVNZgqfo99PsMaaxMzwSXcBM130_assertion description "[Two additional cases were heterozygous for de novo missense mutations in PRKAR1A, which encodes the cAMP-dependent regulatory subunit of protein kinase A and which has been recently reported to be the cause of a form of acrodysostosis resistant to multiple hormones.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP642302.RAZXu5i2ENy4SQ-ud_j5ZNVNZgqfo99PsMaaxMzwSXcBM130_provenance.
- NP642302.RAZXu5i2ENy4SQ-ud_j5ZNVNZgqfo99PsMaaxMzwSXcBM130_assertion evidence source_evidence_literature NP642302.RAZXu5i2ENy4SQ-ud_j5ZNVNZgqfo99PsMaaxMzwSXcBM130_provenance.
- NP642302.RAZXu5i2ENy4SQ-ud_j5ZNVNZgqfo99PsMaaxMzwSXcBM130_assertion SIO_000772 22464252 NP642302.RAZXu5i2ENy4SQ-ud_j5ZNVNZgqfo99PsMaaxMzwSXcBM130_provenance.
- NP642302.RAZXu5i2ENy4SQ-ud_j5ZNVNZgqfo99PsMaaxMzwSXcBM130_assertion wasDerivedFrom befree-20150227 NP642302.RAZXu5i2ENy4SQ-ud_j5ZNVNZgqfo99PsMaaxMzwSXcBM130_provenance.
- NP642302.RAZXu5i2ENy4SQ-ud_j5ZNVNZgqfo99PsMaaxMzwSXcBM130_assertion wasGeneratedBy ECO_0000203 NP642302.RAZXu5i2ENy4SQ-ud_j5ZNVNZgqfo99PsMaaxMzwSXcBM130_provenance.