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We conducted a genome‐wide association study of low bone mineral density (BMD) at the hip and spine utilizing sequence variants found through whole‐genome sequencing of 2636 Icelanders. We found two rare missense mutations, p.Gly496Ala and p.Gly703Ser, in the COL1A2 gene that associate with measures of osteoporosis in Icelanders. Mutations in COL1A2 are known to cause the autosomal dominant disorder...
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