Varaico: Literature-Extracted Genetic Variants

Gene:PEX7
Variant:p.L292F
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PEX7

NM_000288.4:p.L292F

Associated Papers

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.

Jacobsen JC et al.

Case Reports in Genetics, 2015

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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."