Associated Papers
Pulmonary alveolar proteinosis and anemia may be associated with poor prognosis in patients with IARS1 variants.
Li SY et al.
Orphanet Journal of Rare Diseases, 2025
Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma.
Choudhary D et al.
Pharmacogenetics and Genomics, 2008
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