Varaico: Literature-Extracted Genetic Variants

Gene:TRIP12
Variant:p.S1084L
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TRIP12

NM_001284214.2:p.S1084L

Associated Papers

Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient.

Verhoeven W et al.

International Medical Case Reports Journal, 2022

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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."