Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.R50_V51Fs
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RAB27A

NM_183235.3:p.R50_V51Fs

Associated Papers

Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.

Tajik S et al.

Scandinavian Journal of Immunology, 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."