Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF1
Variant:p.A56G
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SERPINF1

NM_002615.7:p.A56G

Associated Papers

Genetics of otosclerosis: finally catching up with other complex traits?

Tavernier LJM et al.

Human Genetics, 2022

Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.

Li S et al.

Frontiers in Genetics, 2020

Insufficient evidence for a role of SERPINF1 in otosclerosis.

Valgaeren H et al.

Molecular Genetics and Genomics : Mgg, 2019

Co-occurrence of heterozygous mutations in COL1A1 and SERPINF1 in a high-risk pregnancy complicated by osteogenesis imperfecta.

Ji Y et al.

Journal of Genetics, 2019

Mutations and altered expression of SERPINF1 in patients with familial otosclerosis.

Ziff JL et al.

Human Molecular Genetics, 2016

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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."