Varaico: Literature-Extracted Genetic Variants

Gene:GDF6
Variant:p.S429R
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GDF6

NM_001001557.4:p.S429R

Associated Papers

Defective Joint Development and Maintenance in GDF6-Related Multiple Synostoses Syndrome.

Yu T et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

Rare heterozygous GDF6 variants in patients with renal anomalies.

Martens H et al.

European Journal of Human Genetics : Ejhg, 2020

32737436 (PubMed )
Supplement: 41431_2020_678_MOESM1_ESM.pdf

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

Drage Berentsen R et al.

Molecular Syndromology, 2019

Further delineation of the GDF6 related multiple synostoses syndrome.

Terhal PA et al.

American Journal of Medical Genetics. Part A, 2018

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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."