Publications:

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

Human Mutation

Häberle, Johannes J; Shchelochkov, Oleg A OA; Wang, Jing J; Katsonis, Panagiotis P; Hall, Lynn L; Reiss, Sara S; Eeds, Angela A; Willis, Alecia A; Yadav, Meeta M; Summar, Samantha S; , ; Lichtarge, Olivier O; Rubio, Vicente V; Wong, Lee-Jun LJ; Summar, Marshall M

Publication Date: 2011-06

Variant appearance in text: CP: 2732G>A

PubMed Link: 21120950

Variant Present in the following documents:

• Main text

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