Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A4RG
Variant:p.S113N
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SLC2A4RG

NM_020062.4:p.S113N

Associated Papers

Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter.

Deng J et al.

Frontiers in Genetics, 2021

34745209 (PubMed )
Supplement: Table1.DOCX

Efficient detection of frequent eIF2B mutations for the rapid molecular diagnosis of CACH/VWM syndrome.

Ferreira MC et al.

Clinical Biochemistry, 2015

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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."