Varaico: Literature-Extracted Genetic Variants

Gene:AK2
Variant:p.R175P
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AK2

NM_001625.4:p.R175P

Associated Papers

The clinical utility of rapid exome sequencing in a consanguineous population.

Monies D et al.

Genome Medicine, 2023

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

Hoenig M et al.

British Journal of Haematology, 2018

High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots.

Al-Mousa H et al.

Frontiers in Immunology, 2018

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

Hoenig M et al.

Blood, 2017

Skeletal abnormalities and successful hematopoietic stem cell transplantation in patients with reticular dysgenesis.

Al-Zahrani D et al.

The Journal of Allergy and Clinical Immunology, 2013

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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."