@article{linhares_wilk_wątor_tostes_weiss_pena_2021,  title={Structural analysis of new compound heterozygous variants in <i>PEPD</i> gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing},  volume={44},  ISSN={1415-4757},  url={https://doi.org/10.1590/1678-4685-GMB-2020-0393},  DOI={10.1590/1678-4685-GMB-2020-0393},  number={2},  journal={Genetics and Molecular Biology},  publisher={Sociedade Brasileira de Genética},  author={Linhares, Natália D. and Wilk, Piotr and Wątor, Elżbieta and Tostes, Meire A. and Weiss, Manfred S. and Pena, Sergio D. J.},  year={2021},  pages={e20200393} }