Varaico: Literature-Extracted Genetic Variants

Gene:PIAS1
Variant:p.A87_S90delFs
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PIAS1

NM_016166.3:p.A87_S90delFs

Associated Papers

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.

Yıldız Y et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024

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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."