Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.E552K
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STXBP2

NM_006949.4:p.E552K

Associated Papers

Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.

Harmon LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40766138 (PubMed )
Supplement: media-1.pdf

Low-Frequency Sensorineural Hearing Loss in Familial Hemophagocytic Lymphohistiocytosis Type 5.

Bezdjian A et al.

The Annals of Otology, Rhinology, and Laryngology, 2018

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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."