Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.L994P
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PEX1

NM_000466.3:p.L994P

Associated Papers

Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.

Thoms S et al.

Bmc Medical Genetics, 2011

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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."