Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.R50T
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RAB27A

NM_183235.3:p.R50T

Associated Papers

Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.

Grabowski P et al.

Molecular & Cellular Proteomics : Mcp, 2019

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

Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.

Meschede IP et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2008

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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."