Report of four new patients with protein-truncating...

European Journal of Human Genetics 2013 / 9 Vol. 21; Iss. 9

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

Reddy, Ramesh, Akoury, Elie, Phuong Nguyen, Ngoc Minh, Abdul-Rahman, Omar A, Dery, Christine, Gupta, Neerja, Daley, William P, Ao, Asangla, Landolsi, Hanene, Ann Fisher, Rosemary, Touitou, Isabelle, S
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Volume:
21
Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2012.274
Date:
September, 2013
File:
PDF, 2.60 MB
english, 2013
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