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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC19A2

Variant:p.V281L

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SLC19A2

NM_006996.3:p.V281L

hg38:chr1:169470153 C>G

Associated Papers

Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.

Neocleous V et al.

Orphanet Journal of Rare Diseases, 2024

38637882 (PubMed )

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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."