The V122I Mutation in Hereditary Transthyretin-Mediated Amyloidosis is Significantly Associated with Polyneuropathy
Related Resources
Association of missense variants in the transthyretin gene with hereditary transthyretin mediated amyloidosis in 302,330 UK Biobank whole exome sequences
M. Plekan, M. M. Parker, S. Ticau, L. D. Ward, A. Deaton, A. Flynn-Carroll, G. Hinkle, P. Nioi
Genome mining yields new disease-associated ROMK variants with distinct defects
Nga H. Nguyen, Srikant Sarangi, Erin M. McChesney, Shaohu Sheng, Jacob D. Durrant, Aidan W. Porter, Thomas R. Kleyman, Zachary W. Pitluk, and Jeffrey L. Brodsky
