Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.A40V
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SERPINH1

NM_001235.5:p.A40V

Associated Papers

Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.

Yu H et al.

Orphanet Journal of Rare Diseases, 2023

Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling.

Panzaru MC et al.

World Journal of Clinical Cases, 2023

Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.

Reich A et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."