Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.P841fs
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COL1A1

NM_000088.4:p.P841fs

Associated Papers

Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.

Lu Y et al.

Intractable & Rare Diseases Research, 2018

Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.

Ackermann AM et al.

American Journal of Medical Genetics. Part A, 2017

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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."