Varaico: Literature-Extracted Genetic Variants

Gene:KLKB1
Variant:p.R218W
Back to variants list

KLKB1

NM_000892.5:p.R218W

Associated Papers

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

Donaldson MR et al.

Neurology, 2003

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."