Associated Papers
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
Zhu G et al.
The Lancet. Neurology, 2025
Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus.
Ahmed EM et al.
Journal of Personalized Medicine, 2024
Effect of cataract-associated mutations in the N-terminal domain of αB-crystallin (HspB5).
Muranova LK et al.
Experimental Eye Research, 2020
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