Varaico: Literature-Extracted Genetic Variants

Gene:STX11
Variant:p.Q250*
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STX11

NM_003764.4:p.Q250*

Associated Papers

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Gadoury-Levesque V et al.

Blood Advances, 2020

STX11-deficient familial hemophagocytic lymphohistiocytosis type 4 is associated with self-resolving flares and a milder clinical course.

Kram DE et al.

Pediatric Blood & Cancer, 2019

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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."