Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_assertion> ?p ?o ?g. }
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- NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_assertion type Assertion NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_head.
- NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_provenance.
- NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_assertion evidence source_evidence_literature NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_provenance.
- NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_assertion SIO_000772 23313019 NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_provenance.
- NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_assertion wasDerivedFrom befree-2016 NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_provenance.
- NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_assertion wasGeneratedBy ECO_0000203 NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_provenance.