Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.Q304insFs
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CANT1

NM_001159773.2:p.Q304insFs

Associated Papers

Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.

Piwar H et al.

International Journal of Molecular Sciences, 2024

Mutation of CANT1 causes Desbuquois dysplasia.

Faden M et al.

American Journal of Medical Genetics. Part A, 2010

Identification of CANT1 mutations in Desbuquois dysplasia.

Huber C et al.

American Journal of Human Genetics, 2009

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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."