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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STXBP2

Variant:p.E430*

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STXBP2

NM_001272034.2:p.E430*

hg38:chr19:7645205 G>T

Associated Papers

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

Tesi B et al.

Genome Medicine, 2015

26684649 (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."