RS61750422 PEX1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Abnormality of metabolism/homeostasis
See cases
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Abnormality of metabolism/homeostasis
See cases
Heimler syndrome 1
Other Variants in PEX1