Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.Y227fs
Back to variants list

ADA2

NM_001282225.2:p.Y227fs

Associated Papers

Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.

Pilania RK et al.

Frontiers in Immunology, 2022

Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.

Hashem H et al.

Journal of Clinical Immunology, 2021

Proerythroblast Cells of Diamond-Blackfan Anemia Patients With RPS19 and CECR1 Mutations Have Similar Transcriptomic Signature.

Karaosmanoglu B et al.

Frontiers in Physiology, 2021

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.

Özen S et al.

The Journal of Rheumatology, 2020

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."