Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.G156Splc
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RAB27A

NM_183235.3:p.G156Splc

Associated Papers

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.

Maimaris J et al.

Journal of Clinical Immunology, 2024

39607447 (PubMed )
Supplement: 10875_2024_1842_MOESM1_ESM.docx

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

Lee Y et al.

Annals of Laboratory Medicine, 2022

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.

Gironi LC et al.

Medicina (kaunas, Lithuania), 2019

Further evidence for genotype-phenotype disparity in Griscelli syndrome.

Lee JYW et al.

The British Journal of Dermatology, 2017

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

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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."