TY  - RPRT
TI  - Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss
AU  - Sharma, G.
AU  - Sabouny, R.
AU  - Joel, M.
AU  - Martens, K.
AU  - de Koning, J.
AU  - Martino, D.
AU  - Pfeffer, G.
AU  - Shutt, T. E.
PY  - 2021
DO  - 10.1101/2021.01.11.426268
UR  - https://www.biorxiv.org/content/10.1101/2021.01.11.426268v1
ID  - 10.1101/2021.01.11.426268
ER  -