Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF1
Variant:p.L280delFs
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SERPINF1

NM_002615.7:p.L280delFs

Associated Papers

SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India.

Selina A et al.

Bone Reports, 2023

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

Narayanan DL et al.

European Journal of Human Genetics : Ejhg, 2021

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.

Madhuri V et al.

Annals of Human Genetics, 2021

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

Mrosk J et al.

Bone, 2018

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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."