Associated Papers
Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1.
Tong L et al.
Iscience, 2023
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA et al.
Journal of Medical Genetics, 2011
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