Varaico: Literature-Extracted Genetic Variants

Gene:SP7
Variant:p.R316C
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SP7

NM_001173467.3:p.R316C

Associated Papers

Osteoclast-independent osteocyte dendrite defects in mice bearing the osteogenesis imperfecta-causing Sp7 R342C mutation.

Wang JS et al.

Bone Research, 2025

Mineralised bone properties in a child with recessive osteogenesis imperfecta type XIV and in a conditional Tmem38b knockout murine model (Runx2-Cre; Tmem38bfl/fl).

Jones CE et al.

Bone, 2025

Update on the Genetics of Osteogenesis Imperfecta.

Jovanovic M et al.

Calcified Tissue International, 2024

A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies.

Al-Mutairi DA et al.

Jbmr Plus, 2024

Long-term follow-up of severe autosomal recessive SP7-related bone disorder.

Gauthier LW et al.

Bone, 2024

Control of osteocyte dendrite formation by Sp7 and its target gene osteocrin.

Wang JS et al.

Nature Communications, 2021

A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.

Smith CEL et al.

Human Molecular Genetics, 2020

Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment.

Fiscaletti M 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."