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ClinVar database of global familial hypercholesterolemia-associated DNA variants
2018
Human Mutation
Accurate and consistent variant classification is imperative for incorporation of rapidly developing sequencing technologies into genomic medicine for improved patient care. An essential requirement for achieving standardized and reliable variant interpretation is data sharing, facilitated by a centralized open-source database. Familial hypercholesterolemia (FH) is an exemplar of the utility of such a resource: it has a high incidence, a favorable prognosis with early intervention and
doi:10.1002/humu.23634
pmid:30311388
pmcid:PMC6206854
fatcat:voevcng4sjepzmqpbkqy4c2v4i