Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.Q119*
Back to variants list

ADA

NM_000022.4:p.Q119*

Associated Papers

RUNX1 mutations are rare in chronic phase polycythaemia vera.

Butcher CM et al.

British Journal of Haematology, 2011

ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability.

Okura Y et al.

British Journal of Haematology, 2011

T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation.

Ariga T et al.

Blood, 2001

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."