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- NP715445.RAKZ-STd-YxL9ueyZJXQvp4T6Bt82dX133C3nUgQ8IHpA130_assertion type Assertion NP715445.RAKZ-STd-YxL9ueyZJXQvp4T6Bt82dX133C3nUgQ8IHpA130_head.
- NP715445.RAKZ-STd-YxL9ueyZJXQvp4T6Bt82dX133C3nUgQ8IHpA130_assertion description "[While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated with a non-lethal multiple pterygium syndrome (Escobar-MPS MIM# 265000).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP715445.RAKZ-STd-YxL9ueyZJXQvp4T6Bt82dX133C3nUgQ8IHpA130_provenance.
- NP715445.RAKZ-STd-YxL9ueyZJXQvp4T6Bt82dX133C3nUgQ8IHpA130_assertion evidence source_evidence_literature NP715445.RAKZ-STd-YxL9ueyZJXQvp4T6Bt82dX133C3nUgQ8IHpA130_provenance.
- NP715445.RAKZ-STd-YxL9ueyZJXQvp4T6Bt82dX133C3nUgQ8IHpA130_assertion SIO_000772 19155175 NP715445.RAKZ-STd-YxL9ueyZJXQvp4T6Bt82dX133C3nUgQ8IHpA130_provenance.
- NP715445.RAKZ-STd-YxL9ueyZJXQvp4T6Bt82dX133C3nUgQ8IHpA130_assertion wasDerivedFrom befree-2016 NP715445.RAKZ-STd-YxL9ueyZJXQvp4T6Bt82dX133C3nUgQ8IHpA130_provenance.
- NP715445.RAKZ-STd-YxL9ueyZJXQvp4T6Bt82dX133C3nUgQ8IHpA130_assertion wasGeneratedBy ECO_0000203 NP715445.RAKZ-STd-YxL9ueyZJXQvp4T6Bt82dX133C3nUgQ8IHpA130_provenance.