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Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy

Document Type

Article

Author

Sondheimer, N.; Dowling., J.J.; Sabha, N.; Oliveira, P.; Wahedi, A.; Wang, D.; Cameron, J.; Aleman, A.; Gonorazky, H.; Amburgey, K.; Shy, M.

Source

In: Human Genetics and Genomics Advances. (Human Genetics and Genomics Advances, 13 April 2023, 4(2))

Subject

Language

English

ISSN

26662477

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Full Text (ScienceDirect O/A) Web of Science Scopus Find it@PNU

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