Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC3
Variant:p.R62W
Back to variants list

EXOSC3

NM_016042.4:p.R62W

Associated Papers

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.

Gazda HT et al.

British Journal of Haematology, 2004

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."