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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STXBP2

Variant:p.E484Fs

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STXBP2

NM_006949.4:p.E484Fs

hg38:chr19:7646344 G>GC

Associated Papers

Uncovering the Relationship Between Genes and Phenotypes Beyond the Gut in Microvillus Inclusion Disease.

Sun M et al.

Cellular and Molecular Gastroenterology and Hepatology, 2024

38307491 (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."