Associated Papers
Identification of Genetic Variants Causing Paediatric Cataract in Myanmar.
Jones JL et al.
Clinical Genetics, 2025
40229141 (PubMed )
Supplement: CGE-108-457-s001.xlsx › Supp_Table_2
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.
Bernal-Bonilla IT et al.
The Application of Clinical Genetics, 2025
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
Ali M et al.
Human Genetics, 2021
Select a paper to view details