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Article

The EAHAD blood coagulation factor VII variant database.

Human mutation - 1 Jul 2020

Giansily-Blaizot Muriel, Rallapalli Pavithra M, Perkins Stephen J, Kemball-Cook Geoffrey, Hampshire Daniel J, Gomez Keith, Ludlam Christopher A, McVey John H

Abstract excerpt

Hereditary blood coagulation factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder resulting from variants in the gene encoding FVII (F7). Integration of genetic variation with functional consequences on protein function is essential for the interpretation of the pathogenicity of novel variants. Here, we describe the integration of previous locus-specific databases for F7 into a single...

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PMID: 32333443
DOI: 10.1002/humu.24025

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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