Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP613808.RAMXoCOKtedxm7Y9a4_ElM7eWv_tVoZ5BgN4nLgDNuwrg130_assertion> ?p ?o ?g. }
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- NP613808.RAMXoCOKtedxm7Y9a4_ElM7eWv_tVoZ5BgN4nLgDNuwrg130_assertion type Assertion NP613808.RAMXoCOKtedxm7Y9a4_ElM7eWv_tVoZ5BgN4nLgDNuwrg130_head.
- NP613808.RAMXoCOKtedxm7Y9a4_ElM7eWv_tVoZ5BgN4nLgDNuwrg130_assertion description "[The more common X-linked recessive form of EDMD is caused by mutations in either EMD (encoding emerin) or FHL1 (encoding four and a half LIM domains 1), while mutations in LMNA (encoding lamin A/C), SYNE1 (encoding nesprin-1) and SYNE2 (encoding nesprin-2) lead to autosomal dominant forms of the condition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP613808.RAMXoCOKtedxm7Y9a4_ElM7eWv_tVoZ5BgN4nLgDNuwrg130_provenance.
- NP613808.RAMXoCOKtedxm7Y9a4_ElM7eWv_tVoZ5BgN4nLgDNuwrg130_assertion evidence source_evidence_literature NP613808.RAMXoCOKtedxm7Y9a4_ElM7eWv_tVoZ5BgN4nLgDNuwrg130_provenance.
- NP613808.RAMXoCOKtedxm7Y9a4_ElM7eWv_tVoZ5BgN4nLgDNuwrg130_assertion SIO_000772 23456229 NP613808.RAMXoCOKtedxm7Y9a4_ElM7eWv_tVoZ5BgN4nLgDNuwrg130_provenance.
- NP613808.RAMXoCOKtedxm7Y9a4_ElM7eWv_tVoZ5BgN4nLgDNuwrg130_assertion wasDerivedFrom befree-20140225 NP613808.RAMXoCOKtedxm7Y9a4_ElM7eWv_tVoZ5BgN4nLgDNuwrg130_provenance.
- NP613808.RAMXoCOKtedxm7Y9a4_ElM7eWv_tVoZ5BgN4nLgDNuwrg130_assertion wasGeneratedBy ECO_0000203 NP613808.RAMXoCOKtedxm7Y9a4_ElM7eWv_tVoZ5BgN4nLgDNuwrg130_provenance.