RS1057517518 PEX1
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What This Variant Does
"CLNSIG=4
Associated Conditions
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
PEX1-related disorder
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
PEX1-related disorder
Heimler syndrome 1
Other Variants in PEX1