Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.
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ABSTRACT:
SUBMITTER: do Rosario MC
PROVIDER: S-EPMC9474726 | biostudies-literature | 2022 Oct
REPOSITORIES: biostudies-literature
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Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.
do Rosario Michelle C MC Kaur Parneet P Girisha Katta Mohan KM Bielas Stephanie S Shukla Anju A
Clinical dysmorphology 20220419 4
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