Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_assertion> ?p ?o ?g. }
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- NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_assertion type Assertion NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_head.
- NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_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." NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_provenance.
- NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_assertion evidence source_evidence_literature NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_provenance.
- NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_assertion SIO_000772 19155175 NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_provenance.
- NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_assertion wasDerivedFrom befree-20150227 NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_provenance.
- NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_assertion wasGeneratedBy ECO_0000203 NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_provenance.