Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.R89H
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SLC2A1

NM_006516.4:p.R89H

Associated Papers

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › SLC2A1

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Pagnamenta AT et al.

Clinical Genetics, 2019

Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.

Yang Y et al.

Endocrine Reviews, 2016

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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."