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Identification of a Novel Heterozygous Variant c.497g>a (p.gly166glu) in Exon 5 of the Sting1 Gene as the Causative Factor of Sting-Associated Vasculopathy With Onset in Infancy (SAVI): A Case Report

Crossref DOI link: https://doi.org/10.1016/j.ad.2025.104512

Published Print: 2026-02

Update policy: https://doi.org/10.1016/elsevier_cm_policy

Authors

Mansilla-Polo, M. https://orcid.org/0000-0001-6730-6723
Martín-Torregrosa, D. https://orcid.org/0009-0008-7918-4733
Saro-Buendía, M.

Escutia-Muñoz, B. https://orcid.org/0009-0002-4793-812X
Botella-Estrada, R.
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Text and Data Mining valid from 2026-02-01

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Article Title: Identification of a Novel Heterozygous Variant c.497g>a (p.gly166glu) in Exon 5 of the Sting1 Gene as the Causative Factor of Sting-Associated Vasculopathy With Onset in Infancy (SAVI): A Case Report

Journal Title: Actas Dermo-Sifiliográficas

CrossRef DOI link to publisher maintained version: https://doi.org/10.1016/j.ad.2025.104512

Content Type: simple-article

Copyright: © 2025 AEDV. Published by Elsevier España, S.L.U.

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