Varaico: Literature-Extracted Genetic Variants

Gene:PIGS
Variant:p.W245*
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PIGS

NM_033198.4:p.W245*

Associated Papers

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.

Efthymiou S et al.

Epilepsia, 2021

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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."