Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.R50delFs
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RAB27A

NM_183235.3:p.R50delFs

Associated Papers

Molecular analysis and clinical findings of Griscelli syndrome patients.

Durmaz A et al.

Journal of Pediatric Hematology/oncology, 2012

Griscelli syndrome: a model system to study vesicular trafficking.

Van Gele M et al.

Pigment Cell & Melanoma Research, 2009

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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."