Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.G399Splc
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CAT

NM_001752.4:p.G399Splc

Associated Papers

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.

Motley AM et al.

American Journal of Human Genetics, 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."