Varaico: Literature-Extracted Genetic Variants

Gene:AK2
Variant:p.R137*
Back to variants list

AK2

NM_001625.4:p.R137*

Associated Papers

TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan.

Wakamatsu M et al.

Journal of Clinical Immunology, 2022

Recent advances in understanding the pathogenesis and management of reticular dysgenesis.

Hoenig M et al.

British Journal of Haematology, 2018

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.

Hoenig M et al.

Blood, 2017

Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies.

Kojima D 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."