Varaico: Literature-Extracted Genetic Variants

Gene:F3
Variant:p.D212N
Back to variants list

F3

NM_001993.5:p.D212N

Associated Papers

Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review.

Kayazawa T et al.

Ophthalmic Genetics, 2022

35026968 (PubMed )
Supplement: supplement_1.pdf

Mechanism of the Ca2+-induced enhancement of the intrinsic factor VIIa activity.

Bjelke JR et al.

The Journal of Biological Chemistry, 2008

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."