Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.K134E
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RAB27A

NM_183235.3:p.K134E

Associated Papers

Genetic background of primary and familial HLH in Qatar: registry data and population study.

Elgaali E et al.

Frontiers in Pediatrics, 2024

Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2.

Ohbayashi N et al.

Pigment Cell & Melanoma Research, 2010

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."