Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_assertion> ?p ?o ?g. }
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- NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_assertion type Assertion NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_head.
- NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_assertion description "[The p.(Val50Met) mutation in CRYBA2 cosegregated with disease phenotype in a four-generation pedigree with autosomal dominant congenital cataracts with incomplete penetrance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance.
- NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_assertion evidence source_evidence_literature NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance.
- NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_assertion SIO_000772 23508780 NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance.
- NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_assertion wasDerivedFrom befree-20140225 NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance.
- NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_assertion wasGeneratedBy ECO_0000203 NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance.