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 | Fish | Environment | Evidence Code |
---|---|---|---|
Charcot-Marie-Tooth disease type 2 |