Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.R268H
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F11

NM_000128.4:p.R268H

Associated Papers

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

Molecular classification of blood and bleeding disorder genes.

Baz B et al.

Npj Genomic Medicine, 2021

34272389 (PubMed )
Supplement: 41525_2021_228_MOESM1_ESM.pdf

Diagnostic Single Gene Analyses Beyond Sanger.

Najm J et al.

Hamostaseologie, 2018

Partial and severe factor XI deficiency in South Australia and the usefulness of factor XI mutation analysis for diagnosis.

Duncan EM et al.

Pathology, 2008

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