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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STXBP2

Variant:p.L409delFs

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STXBP2

NM_006949.4:p.L409delFs

hg38:chr19:7644730 GC>G

Associated Papers

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

Sieni E et al.

Journal of Medical Genetics, 2011

21248318 (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."