Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.R264C
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SLC2A1

NM_006516.4:p.R264C

Associated Papers

Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.

Nagarajan B et al.

Epilepsia Open, 2023

Identification of Copy Number Variation by Array-CGH in Portuguese Children and Adolescents Diagnosed with Autism Spectrum Disorders.

Monteiro S et al.

Neuropediatrics, 2019

Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.

Dai Z et al.

European Journal of Medical Genetics, 2017

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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."