Associated Papers
A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disorders.
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Computational and Structural Biotechnology Journal, 2024
Overview of symptoms and treatment for lysinuric protein intolerance.
Noguchi A et al.
Journal of Human Genetics, 2019
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
Sperandeo MP et al.
Human Mutation, 2008
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