Search Results - Jaime Tobar
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Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome by Macarena Gajardo, José Luis Guerrero, Bárbara Poblete, Esperanza Bayyad, Ignacio Castro, Jorge Maturana, Jaime Tobar, Víctor Faúndes, Paola Krall, Paola Krall, Paola Krall
Published in Frontiers in Molecular Biosciences (2025-04-01)Get full text
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WCN24-850 A complex pediatric case with homozygous IFT140 variants involving renal cysts: a comprehensive analysis to guide diagnosis and patient care by Paola Krall, Esperanza Bayyad, Bárbara Poblete, Victor Faúndes, María Isabel González, Karen Orostica, Jorge Maturana, Ignacio Castro, Jerka Krstulovic, Jaime Tobar, Gastón Mendez, Jose Luis Guerrero
Published in Kidney International Reports (2024-04-01)Get full text
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