Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.L177_Y178delFs
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CANT1

NM_001159773.2:p.L177_Y178delFs

Associated Papers

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

Piwar H et al.

International Journal of Molecular Sciences, 2024

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

Nizon M et al.

Human Mutation, 2012

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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."