Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.Q25*
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SLC2A1

NM_006516.4:p.Q25*

Associated Papers

Clinical and Genetic Characteristics of Chinese Children With GLUT1 Deficiency Syndrome: Case Report and Literature Review.

Hu Q et al.

Frontiers in Genetics, 2021

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Dong X et al.

Journal of Medical Genetics, 2020

32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
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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."