Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.S163R
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RAB27A

NM_183235.3:p.S163R

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

Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.

Ohishi Y et al.

Frontiers in Immunology, 2020

Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.

Cetica V et al.

The Journal of Allergy and Clinical Immunology, 2015

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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."