Varaico: Literature-Extracted Genetic Variants

Gene:PSG2
Variant:p.Q280R
Back to variants list

PSG2

NM_031246.4:p.Q280R

Associated Papers

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.

Buck D et al.

European Journal of Immunology, 2006

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."