Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.S113delFs
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SLC2A1

NM_006516.4:p.S113delFs

Associated Papers

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

The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.

Zacher P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33911214 (PubMed )
Supplement: 41436_2021_1153_MOESM2_ESM.xlsx › Gen_DG
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