Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1336769.RAvJyGK09qKVnS3aOfiF529f3mA_liD2FTh3Il5JVF7gI130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1336769.RAvJyGK09qKVnS3aOfiF529f3mA_liD2FTh3Il5JVF7gI130_assertion type Assertion NP1336769.RAvJyGK09qKVnS3aOfiF529f3mA_liD2FTh3Il5JVF7gI130_head.
- NP1336769.RAvJyGK09qKVnS3aOfiF529f3mA_liD2FTh3Il5JVF7gI130_assertion description "[Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1336769.RAvJyGK09qKVnS3aOfiF529f3mA_liD2FTh3Il5JVF7gI130_provenance.
- NP1336769.RAvJyGK09qKVnS3aOfiF529f3mA_liD2FTh3Il5JVF7gI130_assertion evidence source_evidence_literature NP1336769.RAvJyGK09qKVnS3aOfiF529f3mA_liD2FTh3Il5JVF7gI130_provenance.
- NP1336769.RAvJyGK09qKVnS3aOfiF529f3mA_liD2FTh3Il5JVF7gI130_assertion SIO_000772 8252044 NP1336769.RAvJyGK09qKVnS3aOfiF529f3mA_liD2FTh3Il5JVF7gI130_provenance.
- NP1336769.RAvJyGK09qKVnS3aOfiF529f3mA_liD2FTh3Il5JVF7gI130_assertion wasDerivedFrom befree-2016 NP1336769.RAvJyGK09qKVnS3aOfiF529f3mA_liD2FTh3Il5JVF7gI130_provenance.
- NP1336769.RAvJyGK09qKVnS3aOfiF529f3mA_liD2FTh3Il5JVF7gI130_assertion wasGeneratedBy ECO_0000203 NP1336769.RAvJyGK09qKVnS3aOfiF529f3mA_liD2FTh3Il5JVF7gI130_provenance.