Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.A302_S303insFs
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CANT1

NM_001159773.2:p.A302_S303insFs

Associated Papers

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

Piwar H et al.

International Journal of Molecular Sciences, 2024

Antenatal Phenotype of Desbuquois Dysplasia.

Biji IK et al.

Indian Journal of Pediatrics, 2023

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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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."