Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.Q172fs
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RAB27A

NM_183235.3:p.Q172fs

Associated Papers

2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2020

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

Ohishi Y et al.

Frontiers in Immunology, 2020

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

Tesi B et al.

Genome Medicine, 2015

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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