Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1222605.RAvA9UljpuGGCXPdrrssAuUZ8ALLOBQJGMZw785W52elQ#assertion> ?p ?o ?g. }
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- assertion description "[Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and skeletal dysplasia identified a novel heterozygous allele in MAB21L2, c.151 C>G, p.(Arg51Gly); the mutation was present in all five family members with the disease and appeared de novo in the first affected generation of the three-generational pedigree.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25719200 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.