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Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications

Crossref DOI link: https://doi.org/10.1016/j.nefroe.2025.04.007

Published Print: 2025-05

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Authors

Sánchez-Cazorla, Eloísa https://orcid.org/0009-0002-3767-5020
Temes-Álvarez, Borja https://orcid.org/0000-0003-3220-7690
Oliveros-Martínez, Pilar

Fortes-González, Pedro https://orcid.org/0009-0008-7016-0292
García-Murias, María

Barcia de la Iglesia, Ana https://orcid.org/0000-0003-1484-5656
Carrera, Noa https://orcid.org/0000-0003-0739-0382
García-González, Miguel Ángel
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Text and Data Mining valid from 2025-05-01

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This article is maintained by: Elsevier

Article Title: Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications

Journal Title: Nefrología (English Edition)

CrossRef DOI link to publisher maintained version: https://doi.org/10.1016/j.nefroe.2025.04.007

CrossRef DOI link to the associated document: https://doi.org/10.1016/j.nefro.2025.01.007

Content Type: article

Copyright: © 2025 Published by Elsevier España, S.L.U. on behalf of Sociedad Española de Nefrología.