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- W2745314288 abstract "Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We report two novel missense variations in a compound heterozygous state in the CLCN7 gene, detected through targeted exome sequencing, in a 15-year-old Japanese female with intermediate autosomal recessive osteopetrosis." @default.
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- W2745314288 date "2017-08-17" @default.
- W2745314288 modified "2023-10-12" @default.
- W2745314288 title "Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis" @default.
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- W2745314288 doi "https://doi.org/10.1038/hgv.2017.36" @default.
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