Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
- Citation:
- Akizu, N., V. Cantagrel, M. S. Zaki, L. Al-Gazali, X. Wang, S. L, and G. J,
"Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction",
Nature genetics, vol. 47, issue 3256, pp. 528-534, Submitted.