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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC1A4

Variant:p.A236delFs

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SLC1A4

NM_003038.5:p.A236delFs

hg38:chr2:65010668 GGC>G

Associated Papers

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.

Lee S et al.

European Journal of Human Genetics : Ejhg, 2023

37407733 (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."