Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.W52R
Back to variants list

DKC1

NM_001363.5:p.W52R

Associated Papers

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

Draptchinskaia N et al.

Nature Genetics, 1999

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."