Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.N219delFs
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SLC2A1

NM_006516.4:p.N219delFs

Associated Papers

Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome.

Bourque DK et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021

Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.

Silver G et al.

Genes, 2021

34440401 (PubMed )
Supplement: genes-12-01227-s001.zip › genes-1234092-supplementary.pdf
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