Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.N445T
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GDF5

NM_000557.5:p.N445T

Associated Papers

A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss.

Drage Berentsen R et al.

Molecular Syndromology, 2019

Mutant GDF5 enhances ameloblast differentiation via accelerated BMP2-induced Smad1/5/8 phosphorylation.

Liu J et al.

Scientific Reports, 2016

Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.

Degenkolbe E et al.

Bone, 2015

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

Degenkolbe E et al.

Plos Genetics, 2013

Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.

Seemann P et al.

Plos Genetics, 2009

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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."