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 ...
Tag: blue sclerae
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Case report identifies likely pathogenic COL1A1 variant in pediatric bone fragility
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Benchmark study finds 98.9% accuracy for concurrency-aware SDN intrusion detection
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NIK kinases link phytocytokine perception to early plant immune phosphorylation
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Mouse and human beige adipocytes use futile sodium-potassium cycling for energy expenditure