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

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Authors: Emanuele G. Coci, Vytautas Gapsys, Natasha Shur, Yoon Shin‐Podskarbi, Bert L. Groot, Kathryn Miller, Jerry Vockley, Neal Sondheimer, Rebecca Ganetzky, Peter Freisinger

Journal title: Human Mutation

Journal number: 40/6

Journal publisher: John Wiley & Sons Inc.

Published year: 2019

Published pages: 816-827

DOI identifier: 10.1002/humu.23742

ISSN: 1059-7794