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- NP780879.RA2NwCU3wjq1y-9CjVkCjOJoo_UW0BqffmUx9i0ppZz2k130_assertion type Assertion NP780879.RA2NwCU3wjq1y-9CjVkCjOJoo_UW0BqffmUx9i0ppZz2k130_head.
- NP780879.RA2NwCU3wjq1y-9CjVkCjOJoo_UW0BqffmUx9i0ppZz2k130_assertion description "[We report (1) identification of a set of amplification primers for the 31 exons of ABCC6; (2) identification of the ABCC6 R>X1164 nonsense mutation in the PXE subject with dyslipidemia; (3) identification of common amino acid variants and silent nucleotide variants in ABCC6, with a range of allele frequencies across ethnic groups; (4) evidence consistent with a possible pseudogene encoding 9 exons with sequence homology to ABCC6; and (5) association of the ABCC6 R>Q1268 variant with plasma triglyceride and HDL cholesterol.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP780879.RA2NwCU3wjq1y-9CjVkCjOJoo_UW0BqffmUx9i0ppZz2k130_provenance.
- NP780879.RA2NwCU3wjq1y-9CjVkCjOJoo_UW0BqffmUx9i0ppZz2k130_assertion evidence source_evidence_literature NP780879.RA2NwCU3wjq1y-9CjVkCjOJoo_UW0BqffmUx9i0ppZz2k130_provenance.
- NP780879.RA2NwCU3wjq1y-9CjVkCjOJoo_UW0BqffmUx9i0ppZz2k130_assertion SIO_000772 11776382 NP780879.RA2NwCU3wjq1y-9CjVkCjOJoo_UW0BqffmUx9i0ppZz2k130_provenance.
- NP780879.RA2NwCU3wjq1y-9CjVkCjOJoo_UW0BqffmUx9i0ppZz2k130_assertion wasDerivedFrom befree-20140225 NP780879.RA2NwCU3wjq1y-9CjVkCjOJoo_UW0BqffmUx9i0ppZz2k130_provenance.
- NP780879.RA2NwCU3wjq1y-9CjVkCjOJoo_UW0BqffmUx9i0ppZz2k130_assertion wasGeneratedBy ECO_0000203 NP780879.RA2NwCU3wjq1y-9CjVkCjOJoo_UW0BqffmUx9i0ppZz2k130_provenance.