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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CANT1

Variant:p.L269delFs

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CANT1

NM_001159773.2:p.L269delFs

hg38:chr17:78995047 AG>A

Associated Papers

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

Piwar H et al.

International Journal of Molecular Sciences, 2024

39273648 (PubMed )

Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.

Inoue S et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2014

25252066 (PubMed )

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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."