Varaico: Literature-Extracted Genetic Variants

Gene:PEX7
Variant:p.G291_L292ins1
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PEX7

NM_000288.4:p.G291_L292ins1

Associated Papers

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.

Braverman N et al.

Human Mutation, 2002

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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."