Case report identifies likely pathogenic COL1A1 variant in pediatric bone fragility
A multigenerational case report identified a previously unreported likely pathogenic COL1A1 frameshift variant in a 13-year-old boy with blue sclerae ...
A multigenerational case report identified a previously unreported likely pathogenic COL1A1 frameshift variant in a 13-year-old boy with blue sclerae ...
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© 2025 Scienmag - Science Magazine