Varaico: Literature-Extracted Genetic Variants

Gene:SP7
Variant:p.C275Y
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SP7

NM_001173467.3:p.C275Y

Associated Papers

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

Al-Mutairi DA et al.

Jbmr Plus, 2024

Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

Hayat A et al.

European Journal of Medical Genetics, 2020

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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."