Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.I583N
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F12

NM_000505.4:p.I583N

Associated Papers

Genetic analysis for an inherited coagulation factor XII deficiency pedigree.

Wu C et al.

Hematology (amsterdam, Netherlands), 2025

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

Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report.

Aljabry M et al.

Journal of Medical Case Reports, 2023

A Novel Homozygous Missense Mutation (Ile583Asn) in a Consanguineous Marriage Family with Hereditary Factor XII Deficiency: A Case Report.

Jiang S et al.

Hamostaseologie, 2023

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