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This study implicates this gene as causing autosomal recessive osteoporosis-pseudoglioma syndrome. In a study of 28 families this variant was found in one patient — it is unclear whether it was homozygous or heterozygous (presumed compound heterozygous) and was not seen in “>50 control alleles” (which were not matched for ancestry). Assuming control alleles represent 25 individuals, this gives case+: 1, case-: 27, cont+: 0, cont-: 25. These numbers do not have any statistical significance.