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Article

A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software.

Human mutation - 1 Mar 2009

Zaimidou Sophia, van Baal Sjozef, Smith Timothy D, Mitropoulos Konstantinos, Ljujic Mila, Radojkovic Dragica, Cotton Richard G, Patrinos George P

Abstract excerpt

We have developed a relational database of human SERPINA1 gene mutations, leading to alpha(1)-antitrypsin (AAT) deficiency, called A(1)ATVar, which can be accessed over the World Wide Web at www.goldenhelix.org/A1ATVar. Extensive information has been extracted from the literature and converted in...

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Source

Identifiers

PMID: 19021233
DOI: 10.1002/humu.20857

Genes

SERPINA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19021233-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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