Varaico: Literature-Extracted Genetic Variants

Gene:BTG3
Variant:p.A131fs
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BTG3

NM_001130914.2:p.A131fs

Associated Papers

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Mirzaa G et al.

Nature Genetics, 2014

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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."