Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.M202fs
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CTNNB1

NM_001904.4:p.M202fs

Associated Papers

Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report.

Spagnoli C et al.

American Journal of Medical Genetics. Part A, 2022

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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."