Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP314945.RAgkRpmFpSlqKOQmDAwm8UQ30iT3x2os9NB52XLNZXRTk130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP314945.RAgkRpmFpSlqKOQmDAwm8UQ30iT3x2os9NB52XLNZXRTk130_assertion type Assertion NP314945.RAgkRpmFpSlqKOQmDAwm8UQ30iT3x2os9NB52XLNZXRTk130_head.
- NP314945.RAgkRpmFpSlqKOQmDAwm8UQ30iT3x2os9NB52XLNZXRTk130_assertion description "[In view of these data, we screened MECP2 in a cohort of 185 patients found negative for the expansions across the FRAXA CGG repeat and reported the identification of mutations in four sporadic cases of MR. One of the mutations, A140V, which we found in two patients, has been described previously, whereas the two others, P399L and R453Q, are novel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP314945.RAgkRpmFpSlqKOQmDAwm8UQ30iT3x2os9NB52XLNZXRTk130_provenance.
- NP314945.RAgkRpmFpSlqKOQmDAwm8UQ30iT3x2os9NB52XLNZXRTk130_assertion evidence source_evidence_literature NP314945.RAgkRpmFpSlqKOQmDAwm8UQ30iT3x2os9NB52XLNZXRTk130_provenance.
- NP314945.RAgkRpmFpSlqKOQmDAwm8UQ30iT3x2os9NB52XLNZXRTk130_assertion SIO_000772 11309367 NP314945.RAgkRpmFpSlqKOQmDAwm8UQ30iT3x2os9NB52XLNZXRTk130_provenance.
- NP314945.RAgkRpmFpSlqKOQmDAwm8UQ30iT3x2os9NB52XLNZXRTk130_assertion wasDerivedFrom befree-2016 NP314945.RAgkRpmFpSlqKOQmDAwm8UQ30iT3x2os9NB52XLNZXRTk130_provenance.
- NP314945.RAgkRpmFpSlqKOQmDAwm8UQ30iT3x2os9NB52XLNZXRTk130_assertion wasGeneratedBy ECO_0000203 NP314945.RAgkRpmFpSlqKOQmDAwm8UQ30iT3x2os9NB52XLNZXRTk130_provenance.