Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF1
Variant:p.T128_T130delFs
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SERPINF1

NM_002615.7:p.T128_T130delFs

Associated Papers

Rare Association Between Osteogenesis Imperfecta and Chondrosarcoma: Could a Pathogenic Variant in the Gene SERPINF1 Explain It?

Amorim DMR et al.

Calcified Tissue International, 2023

Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.

Minillo RM et al.

Molecular Syndromology, 2014

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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."