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Distinguishing <i>PEX</i> gene variant severity for mild, severe, and atypical peroxisome biogenesis disorders in <i>Drosophila</i>

2024-11-15

Abstract excerpt

Peroxisomal biogenesis disorders (PBD) are autosomal recessive disorders caused by loss-of-function mutations of one of the PEX genes responsible for peroxisomal formation. Impaired peroxisome assembly causes severe multisystemic failure with patient phenotypes ranging from epilepsy, liver disease, feeding issues, biochemical abnormalities, and neurodegeneration. Variants in the same PEX gene can produce wide di...

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Literature Corpus work
828c0b64-0134-54e4-8d37-4847d4391e66
DOI
10.1101/2024.11.14.623590
Open publication

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