Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.M546I
Back to variants list

F12

NM_000505.4:p.M546I

Associated Papers

Clinical and genetic spectrum of factor XII deficiency in the Han population of East China.

Xu F et al.

Orphanet Journal of Rare Diseases, 2024

A novel homozygous missense mutation (Met527Ile) in a consanguineous marriage family with inherited factor XII deficiency.

Liu M et al.

Hematology (amsterdam, Netherlands), 2020

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."