Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.L113F
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SLC37A4

NM_001164279.2:p.L113F

Associated Papers

Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.

Kaplanis J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.

Beyzaei Z et al.

Scientific Reports, 2021

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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."