Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.L103*
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CTNNB1

NM_001904.4:p.L103*

Associated Papers

Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy.

He Y et al.

Journal of Medical Genetics, 2023

The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder.

Lee S et al.

Frontiers in Pediatrics, 2022

Transcriptional activation capacity of the novel PLAG family of zinc finger proteins.

Kas K et al.

The Journal of Biological Chemistry, 1998

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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."