Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.Q161*
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SLC2A1

NM_006516.4:p.Q161*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations

Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

Wu TH et al.

Scientific Reports, 2023

36918699 (PubMed )
Supplement: 41598_2023_31134_MOESM1_ESM.pdf

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Leen WG et al.

Brain : a Journal of Neurology, 2010

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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."