Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.G122D
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F11

NM_000128.4:p.G122D

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

Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.

Cheema HA et al.

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2023

Analysis of 272 Genetic Variants in the Upgraded Interactive FXI Web Database Reveals New Insights into FXI Deficiency.

Harris VA et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2021

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

Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.

Mitchell M et al.

Human Mutation, 2006

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