Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.Q105_S106delFs
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RAB27A

NM_183235.3:p.Q105_S106delFs

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

Neonatal Onset of Hemophagocytic Lymphohistiocytosis Due to Prenatal Varicella-Zoster Infection in a Neonate with Griscelli Syndrome Type 2.

Nodehi H et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2022

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