Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

Source
- (2024) p.
Author(s)

Identification and characterization of novel founder mutations in NDRG1 : refining the genetic landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria

Source
International journal of molecular sciences - ISSN 1422-0067-25:16 (2024) p. 1-13
Author(s)

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders

Source
Genetics in medicine - ISSN 1098-3600-26:6 (2024) p. 1-14
Author(s)