Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.K134Q
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RAB27A

NM_183235.3:p.K134Q

Associated Papers

Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis.

Ahmari AA et al.

Blood Research, 2021

Hematopoietic stem cell transplantation in children with Griscelli syndrome type 2: a single-center report on 35 patients.

Al-Mofareh M et al.

Bone Marrow Transplantation, 2020

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Gadoury-Levesque V et al.

Blood Advances, 2020

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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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."