| 1 | COL4A1, COL4A1D |
| COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity. | |
| Labelle-Dumais C, Schuitema V, Hayashi G, Hoff K, Gong W, Dao DQ, Ullian EM, Oishi P, Margeta M, Gould DB. | |
| Am J Hum Genet 104(5):847-860. doi: 10.1016/j.ajhg.2019.03.007. 2019 | |