Weterman et al., 2018 - Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. Human molecular genetics   27(23):4036-4050 Full text @ Hum. Mol. Genet.
Human Disease / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
Charcot-Marie-Tooth disease type 2