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Article

A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.

The Journal of allergy and clinical immunology - 1 Oct 2015

Hanna Suheir, Béziat Vivien, Jouanguy Emmanuelle, Casanova Jean Laurent, Etzioni Amos

Abstract excerpt

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Topics

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Share to DNA Helicases
Share to RTEL1 gene
Share to Genetic Diseases, Inborn
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunologic Deficiency Syndromes

Share to Infant

Share to Killer Cells, Natural

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Source

Identifiers

PMID: 26025130
DOI: 10.1016/j.jaci.2015.04.021

Genes

RTEL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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