Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.Q140E
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RAB27A

NM_183235.3:p.Q140E

Associated Papers

Putative multiple myeloma susceptibility genes identified by exome sequencing of 347 familial and early-onset cases.

Pertesi M et al.

Leukemia, 2026

41254116 (PubMed )
Supplement: 41375_2025_2802_MOESM2_ESM.pdf

Association of IgG4-related disease with human inborn errors of immunity.

Batani V et al.

Rheumatology (oxford, England), 2025

40569058 (PubMed )
Supplement: keaf353_supplementary_data.zip › keaf353_Supplementary_Data › rhe-24-2575-File009.pdf

Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.

Steen EA et al.

Frontiers in Immunology, 2021

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

Gallo V et al.

Frontiers in Immunology, 2016

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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."