Pyruvate carboxylase deficiency type A and type C: characterization of 5 novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.

Authors

Emanuele G Coci
Vytautas Gapsys
Natasha Shur, George Washington University
Yoon Shin-Podskarbi
Bert de Groot
Kathryn Miller
Jerry Vockley
Neal Sondheimer
Rebecca Ganetzky
Peter Freisinger

Document Type

Journal Article

Publication Date

3-14-2019

Journal

Human mutation

Inclusive Pages

10.1002/humu.23742

Comments

Epub ahead of print

APA Citation

Coci, E., Gapsys, V., Shur, N., Shin-Podskarbi, Y., de Groot, B., Miller, K., Vockley, J., Sondheimer, N., Ganetzky, R., & Freisinger, P. (2019). Pyruvate carboxylase deficiency type A and type C: characterization of 5 novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.. Human mutation, (). Retrieved from https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/2933

Peer Reviewed

1