Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.R80Splc
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RAB27A

NM_183235.3:p.R80Splc

Associated Papers

The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism.

Lee Y et al.

Annals of Laboratory Medicine, 2022

Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.

Meeths M et al.

Pediatric Blood & Cancer, 2010

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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."