Varaico: Literature-Extracted Genetic Variants

Gene:B4GAT1
Variant:p.E274insFs
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B4GAT1

NM_006876.3:p.E274insFs

Associated Papers

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.

Shaheen R et al.

Neurogenetics, 2013

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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."