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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STXBP2

Variant:p.W288R

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STXBP2

NM_006949.4:p.W288R

hg38:chr19:7642496 T>C

Associated Papers

Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis.

Ahmari AA et al.

Blood Research, 2021

34083498 (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."