Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP405185.RAgXj_cXU_txbSoBdSGu8J7bHGpxWvA3a1pvB3rnIawq8130_assertion> ?p ?o ?g. }
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- NP405185.RAgXj_cXU_txbSoBdSGu8J7bHGpxWvA3a1pvB3rnIawq8130_assertion type Assertion NP405185.RAgXj_cXU_txbSoBdSGu8J7bHGpxWvA3a1pvB3rnIawq8130_head.
- NP405185.RAgXj_cXU_txbSoBdSGu8J7bHGpxWvA3a1pvB3rnIawq8130_assertion description "[A homozygous missense mutation, Arg527His, in the LMNA gene which encodes nuclear lamina proteins lamins A and C has been reported in patients with MAD and partial lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP405185.RAgXj_cXU_txbSoBdSGu8J7bHGpxWvA3a1pvB3rnIawq8130_provenance.
- NP405185.RAgXj_cXU_txbSoBdSGu8J7bHGpxWvA3a1pvB3rnIawq8130_assertion evidence source_evidence_literature NP405185.RAgXj_cXU_txbSoBdSGu8J7bHGpxWvA3a1pvB3rnIawq8130_provenance.
- NP405185.RAgXj_cXU_txbSoBdSGu8J7bHGpxWvA3a1pvB3rnIawq8130_assertion SIO_000772 12913070 NP405185.RAgXj_cXU_txbSoBdSGu8J7bHGpxWvA3a1pvB3rnIawq8130_provenance.
- NP405185.RAgXj_cXU_txbSoBdSGu8J7bHGpxWvA3a1pvB3rnIawq8130_assertion wasDerivedFrom befree-2016 NP405185.RAgXj_cXU_txbSoBdSGu8J7bHGpxWvA3a1pvB3rnIawq8130_provenance.
- NP405185.RAgXj_cXU_txbSoBdSGu8J7bHGpxWvA3a1pvB3rnIawq8130_assertion wasGeneratedBy ECO_0000203 NP405185.RAgXj_cXU_txbSoBdSGu8J7bHGpxWvA3a1pvB3rnIawq8130_provenance.