Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.
European Journal Of Human Genetics : Ejhg
Safarova, Maya S MS; Klee, Eric W EW; Baudhuin, Linnea M LM; Winkler, Erin M EM; Kluge, Michelle L ML; Bielinski, Suzette J SJ; Olson, Janet E JE; Kullo, Iftikhar J IJ
Publication Date: 2017-04
Variant appearance in text: LDLR: 1061-8T>C; rs72658861
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.