Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.D74H
Back to variants list

RAB27A

NM_183235.3:p.D74H

Associated Papers

Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis.

Lucchini G et al.

Blood, 2018

A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.

Netter P et al.

The Journal of Allergy and Clinical Immunology, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."