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

2019 | journal article

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​Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation​
Coci, E. G.; Gapsys, V. ; Shur, N.; Shin‐Podskarbi, Y.; de Groot, B. L. ; Miller, K. & Vockley, J. et al.​ (2019) 
Human Mutation40(6) pp. 816​-827​.​ DOI: https://doi.org/10.1002/humu.23742 

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Authors
Coci, Emanuele G.; Gapsys, Vytautas ; Shur, Natasha; Shin‐Podskarbi, Yoon; de Groot, Bert L. ; Miller, Kathryn; Vockley, Jerry; Sondheimer, Neal; Ganetzky, Rebecca; Freisinger, Peter
Issue Date
2019
Journal
Human Mutation 
ISSN
1059-7794
eISSN
1098-1004
Language
English

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