Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.I171F
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CANT1

NM_001159773.2:p.I171F

Associated Papers

Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues.

Dennis EP et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

Balasubramanian K 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."