Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1017810.RA7jeKV2NxRa9K_LPuRWa6M-ShcVbWhJyLMQi5yrpS-YU130_assertion> ?p ?o ?g. }
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- NP1017810.RA7jeKV2NxRa9K_LPuRWa6M-ShcVbWhJyLMQi5yrpS-YU130_assertion type Assertion NP1017810.RA7jeKV2NxRa9K_LPuRWa6M-ShcVbWhJyLMQi5yrpS-YU130_head.
- NP1017810.RA7jeKV2NxRa9K_LPuRWa6M-ShcVbWhJyLMQi5yrpS-YU130_assertion description "[Understanding of this group of disorders has advanced in recent years through the identification of causative mutations in various genes, most of which encode proteins of the sarcomeric Z-disc, including desmin, alphaB-crystallin, myotilin, ZASP and filamin C. This review focuses on the MFMs arising from defects in these proteins, summarising genetic and clinical features of the disorders and then discussing emerging understanding of the molecular pathogenic mechanisms leading to muscle fibre degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1017810.RA7jeKV2NxRa9K_LPuRWa6M-ShcVbWhJyLMQi5yrpS-YU130_provenance.
- NP1017810.RA7jeKV2NxRa9K_LPuRWa6M-ShcVbWhJyLMQi5yrpS-YU130_assertion evidence source_evidence_literature NP1017810.RA7jeKV2NxRa9K_LPuRWa6M-ShcVbWhJyLMQi5yrpS-YU130_provenance.
- NP1017810.RA7jeKV2NxRa9K_LPuRWa6M-ShcVbWhJyLMQi5yrpS-YU130_assertion SIO_000772 18764962 NP1017810.RA7jeKV2NxRa9K_LPuRWa6M-ShcVbWhJyLMQi5yrpS-YU130_provenance.
- NP1017810.RA7jeKV2NxRa9K_LPuRWa6M-ShcVbWhJyLMQi5yrpS-YU130_assertion wasDerivedFrom befree-20150227 NP1017810.RA7jeKV2NxRa9K_LPuRWa6M-ShcVbWhJyLMQi5yrpS-YU130_provenance.
- NP1017810.RA7jeKV2NxRa9K_LPuRWa6M-ShcVbWhJyLMQi5yrpS-YU130_assertion wasGeneratedBy ECO_0000203 NP1017810.RA7jeKV2NxRa9K_LPuRWa6M-ShcVbWhJyLMQi5yrpS-YU130_provenance.