Associated Papers
Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.
Granhøj J et al.
Kidney International Reports, 2025
41278337 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_S13
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency.
Zhou X et al.
Journal of Human Genetics, 2023
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