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. 2018 Oct 2;115(42):E9782–E9791. doi: 10.1073/pnas.1806174115

Table 1.

Disease mutations in hnRNP proteins

Gene product Disease Causative mutation
hnRNPA1 ALS/multisystem proteinopathy D262 → V(3), D262 → N(3)
hnRNPA2 Multisystem proteinopathy D290 → V(3)
hnRNPDL Limb-girdle muscular dystrophy D378 → N(8), D378 → H(8)