Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.G131S
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GDF5

NM_000557.5:p.G131S

Associated Papers

Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling.

Guo S et al.

Cellular & Molecular Biology Letters, 2010

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.

Liu M et al.

Journal of Human Genetics, 2006

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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."