Index | PMID | Date | Reference |
---|---|---|---|
1 | NA | 2017 | NC_012920.1:m.7965T>C (2017) National Center for Biotechnology Information ClinVar record . ClinVar ID 3440835 (https://www.ncbi.nlm.nih.gov/clinvar/variation/440835/): accessed 12/1/2017 . |
2 | 28802248 | 2017 | Rohanizadegan, M., Abdo, S. M., O'Donnell-Luria, A., Mihalek, I., Chen, P., Sanders, M., Leeman, K., Cho, M., Hung, C., Bodamer, O. (2017) Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure Cold Spring Harbor Molecular Case Studies . 3 (6): . |
3 | 30461153 | 2019 | Kuleva, M., Ben Miled, S., Steffann, J., Bonnefont, J. P., Rondeau, S., Ville, Y., Munnich, A., Salomon, L. J. (2019) Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre BJOG . 126 (11): 1372-1379 . |