Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR1E

Variant:p.K295del1

Back to variants list

POLR1E

NM_022490.4:p.K295del1

hg38:chr9:37498220 GAAA>G

Associated Papers

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

Thiffault I et al.

Nature Communications, 2015

26151409 (PubMed )

Supplement: ncomms8623-s1.pdf

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."