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Archives of Endocrinology and Metabolism|February 6, 2026
Challenging the recessive paradigm of Mahvash disease: heterozygous phenotypes from a novel splice-site variantFrancisco Martínez Bugallo, Gema García de, Carol Prieto-Morín
Translational Cancer Research|March 14, 2024
The impact of alpha-1 antitrypsin deficiency alleles on lung cancer survivalJosé María Hernández-Pérez, Carolina Ramos-Izquierdo, Juan Marco Figueira-Gonçalves, et al.
Gene|September 1, 2025
A new SERPINA1 null allele of the PI*S-plus type: PI*Q0TeguesteJosé María Hernández Pérez, Ainhoa Escuela-Escobar, Ruth López Travieso, et al.
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