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Hypomorphic variant in TRNT1 induces a milder autoinflammatory disease with congenital cataracts and impaired sexual development.

Rheumatology (Oxford, England) - 5 May 2022

Bravo García-Morato María, Padilla-Merlano Beatriz, Matas Pérez Elisabet, Valdivieso Shephard Juan Luis, Robles Marhuenda Ángel, Santos Simarro Fernando, López-Granados Eduardo, Rodríguez Pena Rebeca

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PMID: 34864912
DOI: 10.1093/rheumatology/keab903

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