Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.E93G
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GDF5

NM_000557.5:p.E93G

Associated Papers

Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.

Farooq M et al.

Human Genetics, 2013

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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."