Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.G319V
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GDF5

NM_000557.5:p.G319V

Associated Papers

Chimerism for 20q11.2 microdeletion of GDF5 explains discordant phenotypes in monochorionic-diamniotic twins.

Meredith MM et al.

American Journal of Medical Genetics. Part A, 2017

Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

Stange K et al.

Journal of Human 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."