Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP344505.RAu5eqhFWbao2Rn_JeNYjIufb_WlotLQplAt1_gmQ5h1g130_assertion> ?p ?o ?g. }
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- NP344505.RAu5eqhFWbao2Rn_JeNYjIufb_WlotLQplAt1_gmQ5h1g130_assertion type Assertion NP344505.RAu5eqhFWbao2Rn_JeNYjIufb_WlotLQplAt1_gmQ5h1g130_head.
- NP344505.RAu5eqhFWbao2Rn_JeNYjIufb_WlotLQplAt1_gmQ5h1g130_assertion description "[Molecular analysis of the reciprocal chromosomal translocation t(12;22)(p11.2;q13.3) cosegregating with a complex type of synpolydactyly showed involvement of an alternatively spliced exon of the fibulin-1 gene (FBLN1 located in 22q13.3) and the C12orf2 (HoJ-1) gene on the short arm of chromosome 12.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP344505.RAu5eqhFWbao2Rn_JeNYjIufb_WlotLQplAt1_gmQ5h1g130_provenance.
- NP344505.RAu5eqhFWbao2Rn_JeNYjIufb_WlotLQplAt1_gmQ5h1g130_assertion evidence source_evidence_literature NP344505.RAu5eqhFWbao2Rn_JeNYjIufb_WlotLQplAt1_gmQ5h1g130_provenance.
- NP344505.RAu5eqhFWbao2Rn_JeNYjIufb_WlotLQplAt1_gmQ5h1g130_assertion SIO_000772 11836357 NP344505.RAu5eqhFWbao2Rn_JeNYjIufb_WlotLQplAt1_gmQ5h1g130_provenance.
- NP344505.RAu5eqhFWbao2Rn_JeNYjIufb_WlotLQplAt1_gmQ5h1g130_assertion wasDerivedFrom befree-2016 NP344505.RAu5eqhFWbao2Rn_JeNYjIufb_WlotLQplAt1_gmQ5h1g130_provenance.
- NP344505.RAu5eqhFWbao2Rn_JeNYjIufb_WlotLQplAt1_gmQ5h1g130_assertion wasGeneratedBy ECO_0000203 NP344505.RAu5eqhFWbao2Rn_JeNYjIufb_WlotLQplAt1_gmQ5h1g130_provenance.