Bone · 2022 · 20 citations · 27 references
Bone DiseaseSclerostinDevelopmental BiologyOrthopaedic SurgeryGeneticsOsteogenesisMorphogenesisDominant Osteogenesis ImperfectaBone HomeostasisLow Bone TurnoverHeterozygous Sp7 VariantMedicineOsteoporosisBone MetabolismOsteocalcin
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The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 9.6K citations · Full text