Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.N112fs
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RAB27A

NM_183235.3:p.N112fs

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

Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations.

Russ A et al.

Journal of Pediatric Hematology/oncology, 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."