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

Ramesh Reddy, Elie Akoury, Ngoc Minh Nguyen, Omar Abdul‐Rahman, Christine Déry, Neerja Gupta, William P. Daley, Asangla Ao, Hanène Landolsi, Rosemary A. Fisher,

European Journal of Human Genetics · 2012 · 81 citations · 24 references

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