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Genetic Genealogy·2025
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation
Warshauer EM, Maier PA, Runfeldt G, Fuentes I, Escamez MJ, Valinotto L, Natale M, Manzur G, Illera N, Garcia M, Del Rio M, Mencia A, Holguin A, Larcher F, He…
Journal of medical genetics · doi:10.1136/jmg-2025-110967 · PMC12716802