Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.K187R
Back to variants list

NBN

NM_002485.5:p.K187R

Associated Papers

Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.

Alam NA et al.

The Journal of Molecular Diagnostics : Jmd, 2005

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.

Alam NA et al.

Human Molecular Genetics, 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."