Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.W221R
Back to variants list

SERPINC1

NM_000488.4:p.W221R

Associated Papers

Clinical Phenotype and Genetic Analysis of a Family with Hereditary Antithrombin Deficiency Caused by SERPINC1 Gene Mutation.

Zhao Y et al.

Thrombosis and Haemostasis, 2026

DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.

Elsharkawi I et al.

Journal of Inherited Metabolic Disease, 2023

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."