Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.C328S
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PEX12

NM_000286.3:p.C328S

Associated Papers

PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.

Okumoto K et al.

Molecular and Cellular Biology, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."