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

Further evidence for genotype-phenotype disparity in Griscelli syndrome.

Lee JYW et al.

The British Journal of Dermatology, 2017

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