Associated Papers
Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental Disorders.
Vettiatil D et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40894167 (PubMed )
Supplement: media-2.xlsx › Sheet1
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.
Contreras JL et al.
Frontiers in Pediatrics, 2021
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
Font-Llitjós M et al.
European Journal of Human Genetics : Ejhg, 2009
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
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