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First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2.

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Title: First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2.
Authors: Villafán-Bernal JR; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.; Programa de Investigadoras e Investigadores por México, Secretaría de Ciencia, Humanidades, Tecnología e Innovación, Mexico City 03940, Mexico., Rosas-Hernández J; Centro de Rehabilitación Infantil Teletón, Altamira 89607, Tamaulipas, Mexico., García-Ortiz H; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico., Martínez-Hernández A; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico., Contreras-Cubas C; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico., Guerrero-Contreras I; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico., Lee H; 3billion, Inc., Seoul 03161, Republic of Korea., Seo GH; 3billion, Inc., Seoul 03161, Republic of Korea., Carnevale A; Mendelian Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico., Barajas-Olmos F; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico., Orozco L; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.
Source: International journal of molecular sciences [Int J Mol Sci] 2025 Dec 14; Vol. 26 (24). Date of Electronic Publication: 2025 Dec 14.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2.
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  Data: <searchLink fieldCode="AU" term="%22Villafán-Bernal+JR%22">Villafán-Bernal JR</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.; Programa de Investigadoras e Investigadores por México, Secretaría de Ciencia, Humanidades, Tecnología e Innovación, Mexico City 03940, Mexico.<br /><searchLink fieldCode="AU" term="%22Rosas-Hernández+J%22">Rosas-Hernández J</searchLink>; Centro de Rehabilitación Infantil Teletón, Altamira 89607, Tamaulipas, Mexico.<br /><searchLink fieldCode="AU" term="%22García-Ortiz+H%22">García-Ortiz H</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.<br /><searchLink fieldCode="AU" term="%22Martínez-Hernández+A%22">Martínez-Hernández A</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.<br /><searchLink fieldCode="AU" term="%22Contreras-Cubas+C%22">Contreras-Cubas C</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.<br /><searchLink fieldCode="AU" term="%22Guerrero-Contreras+I%22">Guerrero-Contreras I</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.<br /><searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink>; 3billion, Inc., Seoul 03161, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Seo+GH%22">Seo GH</searchLink>; 3billion, Inc., Seoul 03161, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Carnevale+A%22">Carnevale A</searchLink>; Mendelian Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.<br /><searchLink fieldCode="AU" term="%22Barajas-Olmos+F%22">Barajas-Olmos F</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.<br /><searchLink fieldCode="AU" term="%22Orozco+L%22">Orozco L</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.
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  Data: <searchLink fieldCode="JN" term="%22101092791%22">International journal of molecular sciences</searchLink> [Int J Mol Sci] 2025 Dec 14; Vol. 26 (24). <i>Date of Electronic Publication: </i>2025 Dec 14.
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              Text: 2025 Dec 14
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