Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP615607.RAqAfVPePFWeuNuEuJuw3iEC_tcxpgSTt3EZf2uuGjaMQ130_assertion> ?p ?o ?g. }
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- NP615607.RAqAfVPePFWeuNuEuJuw3iEC_tcxpgSTt3EZf2uuGjaMQ130_assertion type Assertion NP615607.RAqAfVPePFWeuNuEuJuw3iEC_tcxpgSTt3EZf2uuGjaMQ130_head.
- NP615607.RAqAfVPePFWeuNuEuJuw3iEC_tcxpgSTt3EZf2uuGjaMQ130_assertion description "[We report the case of a patient with an initially mild and then progressively severe form of osteogenesis imperfecta due to a novel homozygous splicing mutation in FKBP10 (intron 8 c.1399+1G>A), which results in aberrant mRNA processing and consequent lack of FKBP65 chaperone.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP615607.RAqAfVPePFWeuNuEuJuw3iEC_tcxpgSTt3EZf2uuGjaMQ130_provenance.
- NP615607.RAqAfVPePFWeuNuEuJuw3iEC_tcxpgSTt3EZf2uuGjaMQ130_assertion evidence source_evidence_literature NP615607.RAqAfVPePFWeuNuEuJuw3iEC_tcxpgSTt3EZf2uuGjaMQ130_provenance.
- NP615607.RAqAfVPePFWeuNuEuJuw3iEC_tcxpgSTt3EZf2uuGjaMQ130_assertion SIO_000772 22061863 NP615607.RAqAfVPePFWeuNuEuJuw3iEC_tcxpgSTt3EZf2uuGjaMQ130_provenance.
- NP615607.RAqAfVPePFWeuNuEuJuw3iEC_tcxpgSTt3EZf2uuGjaMQ130_assertion wasDerivedFrom befree-20140225 NP615607.RAqAfVPePFWeuNuEuJuw3iEC_tcxpgSTt3EZf2uuGjaMQ130_provenance.
- NP615607.RAqAfVPePFWeuNuEuJuw3iEC_tcxpgSTt3EZf2uuGjaMQ130_assertion wasGeneratedBy ECO_0000203 NP615607.RAqAfVPePFWeuNuEuJuw3iEC_tcxpgSTt3EZf2uuGjaMQ130_provenance.