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- NP49704.RAmqmrXf9pyloLDfqivjqYIroTc6ixU0gMuXLuFS3Iut8130_assertion type Assertion NP49704.RAmqmrXf9pyloLDfqivjqYIroTc6ixU0gMuXLuFS3Iut8130_head.
- NP49704.RAmqmrXf9pyloLDfqivjqYIroTc6ixU0gMuXLuFS3Iut8130_assertion wasGeneratedBy ECO_0000203 NP49704.RAmqmrXf9pyloLDfqivjqYIroTc6ixU0gMuXLuFS3Iut8130_provenance.
- NP49704.RAmqmrXf9pyloLDfqivjqYIroTc6ixU0gMuXLuFS3Iut8130_assertion wasDerivedFrom gad-20130706 NP49704.RAmqmrXf9pyloLDfqivjqYIroTc6ixU0gMuXLuFS3Iut8130_provenance.
- NP49704.RAmqmrXf9pyloLDfqivjqYIroTc6ixU0gMuXLuFS3Iut8130_assertion SIO_000772 12706374 NP49704.RAmqmrXf9pyloLDfqivjqYIroTc6ixU0gMuXLuFS3Iut8130_provenance.
- NP49704.RAmqmrXf9pyloLDfqivjqYIroTc6ixU0gMuXLuFS3Iut8130_assertion evidence source_evidence_literature NP49704.RAmqmrXf9pyloLDfqivjqYIroTc6ixU0gMuXLuFS3Iut8130_provenance.
- NP49704.RAmqmrXf9pyloLDfqivjqYIroTc6ixU0gMuXLuFS3Iut8130_assertion description "[These gene variants were detected in either homozygous or compound heterozygous form in 7% of the study population. Additionally, the frequency of the 625G>A allele in the Hispanic population (30%) was significantly higher than that of the African-American (9%) and Asian (13%) subpopulations. A previously unreported variant, IVS 5 (-10) C>T, was identified in three African-American newborns (0.3%). The C(4)-acylcarnitine concentration in blood spots was significantly higher in subjects homozygous for the 625A variant when compared to those homozygous for the wild type (p<0.0001). However, none of the observed genotypes was associated with a concentration of C(4)-acylcarnitine that would be consistent with a biochemical diagnosis of SCAD deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP49704.RAmqmrXf9pyloLDfqivjqYIroTc6ixU0gMuXLuFS3Iut8130_provenance.