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Paper Details

Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis.
Bone
10
2022
ALPL, COL1A1, COL1A2, FKBP10, HGD, IOP, LRP5, LRP5 variants, Osteoporosis, PLS3, SLC34A3, VUS, WNT, Women, adult, bone fragility, bone loss, calcium, childhood fractures, genetic variants, idiopathic osteoporosis, low trauma fractures, nephrolithiasis, novel disease genes, osteoblast, osteoporosis, women
Author NameAffiliation
Joan M LappeCreighton University Medical Center
David B GoldsteinInstitute for Genomic Medicine, Columbia University Irving Medical Center
David B GoldsteinInstitute for Genomic Medicine, Columbia University Irving Medical Center
Elizabeth ShaneColumbia University Vagelos College of Physicians & Surgeons
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Release 1.2