Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF1
Variant:p.A107_I118del0
Back to variants list

SERPINF1

NM_002615.7:p.A107_I118del0

Associated Papers

New genes in bone development: what's new in osteogenesis imperfecta.

Marini JC et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

Schwarze U et al.

Human Molecular Genetics, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."