Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.E6_A14del0
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TSEN54

NM_207346.3:p.E6_A14del0

Associated Papers

Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype?

Samanta D et al.

Annals of Indian Academy of Neurology, 0

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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."