Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions
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DOI: 10.1038/s41467-025-60339-7
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- Angela Wei & Richard Border & Boyang Fu & Sinéad Cullina & Nadav Brandes & Seon-Kyeong Jang & Sriram Sankararaman & Eimear E. Kenny & Miriam S. Udler & Vasilis Ntranos & Noah Zaitlen & Valerie A. Arbo, 2025. "Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions," Nature Communications, Nature, vol. 16(1), pages 1-13, December.
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