Varaico: Literature-Extracted Genetic Variants

Gene:PEX7
Variant:p.H18_G19ins2
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PEX7

NM_000288.4:p.H18_G19ins2

Associated Papers

Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.

Phadke SR et al.

Journal of Applied Genetics, 2010

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."