Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.Q220*
Back to variants list

PSAP

NM_002778.4:p.Q220*

Associated Papers

Severe type I protein C deficiency with neonatal purpura fulminans due to a novel homozygous mutation in exon 6 of the protein C gene.

Abu-Amero KK et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

Ylikorkala A et al.

Human Molecular 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."