Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1175832.RA_LQQKm9b1iKTWgKai2LUd2HfJtOunjbZYPf50e7tQ_s130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1175832.RA_LQQKm9b1iKTWgKai2LUd2HfJtOunjbZYPf50e7tQ_s130_assertion type Assertion NP1175832.RA_LQQKm9b1iKTWgKai2LUd2HfJtOunjbZYPf50e7tQ_s130_head.
- NP1175832.RA_LQQKm9b1iKTWgKai2LUd2HfJtOunjbZYPf50e7tQ_s130_assertion description "[SMCHD1 c.1040+1G>A, a pathogenic splice-site variant, was identified in a FSHD1 family with a borderline number of D4Z4 repeats (10) and a variable phenotype (in which a LMNA1 sequence variant was previously described), and SMCHD1 c.2606 G>T, a putative missense variant (p.Gly869Val) with strong in vitro indications of pathogenicity, was identified in a family with an unusual muscular dystrophy with some FSHD-like features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1175832.RA_LQQKm9b1iKTWgKai2LUd2HfJtOunjbZYPf50e7tQ_s130_provenance.
- NP1175832.RA_LQQKm9b1iKTWgKai2LUd2HfJtOunjbZYPf50e7tQ_s130_assertion evidence source_evidence_literature NP1175832.RA_LQQKm9b1iKTWgKai2LUd2HfJtOunjbZYPf50e7tQ_s130_provenance.
- NP1175832.RA_LQQKm9b1iKTWgKai2LUd2HfJtOunjbZYPf50e7tQ_s130_assertion SIO_000772 24755953 NP1175832.RA_LQQKm9b1iKTWgKai2LUd2HfJtOunjbZYPf50e7tQ_s130_provenance.
- NP1175832.RA_LQQKm9b1iKTWgKai2LUd2HfJtOunjbZYPf50e7tQ_s130_assertion wasDerivedFrom befree-2016 NP1175832.RA_LQQKm9b1iKTWgKai2LUd2HfJtOunjbZYPf50e7tQ_s130_provenance.
- NP1175832.RA_LQQKm9b1iKTWgKai2LUd2HfJtOunjbZYPf50e7tQ_s130_assertion wasGeneratedBy ECO_0000203 NP1175832.RA_LQQKm9b1iKTWgKai2LUd2HfJtOunjbZYPf50e7tQ_s130_provenance.