Varaico: Literature-Extracted Genetic Variants

Gene:PRIM1
Variant:p.R304Q
Back to variants list

PRIM1

NM_000946.3:p.R304Q

Associated Papers

Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.

Sio CA et al.

Pediatric Research, 2017

Arg304 of human DNA primase is a key contributor to catalysis and NTP binding: primase and the family X polymerases share significant sequence homology.

Kirk BW et al.

Biochemistry, 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."