Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.
Olivieri G et al.
Orphanet Journal of Rare Diseases, 2019
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D et al.
Orphanet Journal of Rare Diseases, 2015
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Salvi S et al.
Human Mutation, 2001
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