Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.D352_C353del1
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STXBP2

NM_006949.4:p.D352_C353del1

Associated Papers

Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease.

Selvanathan A et al.

Pediatric Blood & Cancer, 2023

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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."