Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.R519Q
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H6PD

NM_004285.4:p.R519Q

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."