Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.E113_S119delFs
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SERPINH1

NM_001235.5:p.E113_S119delFs

Associated Papers

HSP47 in human diseases: Navigating pathophysiology, diagnosis and therapy.

Khan ES et al.

Clinical and Translational Medicine, 2024

Roles of the endoplasmic reticulum-resident, collagen-specific molecular chaperone Hsp47 in vertebrate cells and human disease.

Ito S et al.

The Journal of Biological Chemistry, 2019

Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.

Song Y et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 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."