Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1
Variant:p.L203L
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DUOXA1

NM_001276266.2:p.L203L

Associated Papers

Long-term outcome of CblC deficiency complicated with pulmonary hypertension.

Ding S 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."