Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.M388R
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SLC6A1

NM_003042.4:p.M388R

Associated Papers

Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review.

Trivisano M et al.

Frontiers in Neuroscience, 2023

37700749 (PubMed )
Supplement: Table_1.XLSX › Data

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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