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- source_evidence_literature type ECO_0000212 NP1175831.RA1guJvjgQNfNlTQaYmy9U8nzsF_jwEWM0jfjb5bhb0JI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1175831.RA1guJvjgQNfNlTQaYmy9U8nzsF_jwEWM0jfjb5bhb0JI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1175831.RA1guJvjgQNfNlTQaYmy9U8nzsF_jwEWM0jfjb5bhb0JI130_provenance.
- NP1175831.RA1guJvjgQNfNlTQaYmy9U8nzsF_jwEWM0jfjb5bhb0JI130_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." NP1175831.RA1guJvjgQNfNlTQaYmy9U8nzsF_jwEWM0jfjb5bhb0JI130_provenance.
- NP1175831.RA1guJvjgQNfNlTQaYmy9U8nzsF_jwEWM0jfjb5bhb0JI130_assertion evidence source_evidence_literature NP1175831.RA1guJvjgQNfNlTQaYmy9U8nzsF_jwEWM0jfjb5bhb0JI130_provenance.
- NP1175831.RA1guJvjgQNfNlTQaYmy9U8nzsF_jwEWM0jfjb5bhb0JI130_assertion SIO_000772 24755953 NP1175831.RA1guJvjgQNfNlTQaYmy9U8nzsF_jwEWM0jfjb5bhb0JI130_provenance.
- NP1175831.RA1guJvjgQNfNlTQaYmy9U8nzsF_jwEWM0jfjb5bhb0JI130_assertion wasDerivedFrom befree-2016 NP1175831.RA1guJvjgQNfNlTQaYmy9U8nzsF_jwEWM0jfjb5bhb0JI130_provenance.
- NP1175831.RA1guJvjgQNfNlTQaYmy9U8nzsF_jwEWM0jfjb5bhb0JI130_assertion wasGeneratedBy ECO_0000203 NP1175831.RA1guJvjgQNfNlTQaYmy9U8nzsF_jwEWM0jfjb5bhb0JI130_provenance.
- befree-2016 importedOn "2016-02-19" NP1175831.RA1guJvjgQNfNlTQaYmy9U8nzsF_jwEWM0jfjb5bhb0JI130_provenance.