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Article

Evidence of digenic inheritance in autoinflammation-associated genes.

Journal of genetics - 1 Dec 2016

Neocleous Vassos, Byrou Stefania, Toumba Meropi, Costi Constantina, Shammas Christos, Kyriakou Christina, Christophidou-Anastasiadou Violetta, Tanteles George A, Hadjipanayis Adamos, Phylactou Leonidas A

Abstract excerpt

Familial Mediterranean fever (FMF) has traditionally been considered as a monogenic autosomal recessive disorder caused by mutations in the MEFV gene with highest incidence among Mediterranean populations. In a considerable number of patients with typical FMF, only one MEFV mutation was identified and the possibility that more than one autoinflammatory gene may be responsible for their disease was investigated....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27994174
DOI: 10.1007/s12041-016-0691-5

Genes

MEFV
NLRP3
MVK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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