Associated Papers
COG Complex in Golgi Trafficking and Glycosylation.
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Sub-cellular Biochemistry, 2026
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
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Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30940925 (PubMed )
Supplement: 41436_2019_503_MOESM1_ESM.docx
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