Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.R50delFs
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RAB27A

NM_183235.3:p.R50delFs

Associated Papers

Case Report: Late-onset primary hemophagocytic lymphohistiocytosis leading to the diagnosis of Griscelli syndrome type 2 in a young woman with phenotypically inapparent partial albinism.

Rausch J et al.

Frontiers in Immunology, 2025

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

Lee Y et al.

Annals of Laboratory Medicine, 2022

Griscelli Syndrome Presented with Status Epilepticus and Hemophagocytic Lymphohistiocytosis

Demircioğlu F et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2017

Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2).

Henkes M et al.

Annals of Hematology, 2015

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

Meeths M et al.

Pediatric Blood & Cancer, 2010

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

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

Zur Stadt U et al.

Human Mutation, 2006

Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity.

Sanal O et al.

Journal of Clinical Immunology, 2002

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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."