Varaico: Literature-Extracted Genetic Variants

Gene:GDF6
Variant:p.L289P
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GDF6

NM_001001557.4:p.L289P

Associated Papers

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

Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies.

den Hollander AI et al.

Bmc Genetics, 2010

Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans.

Giampietro PF et al.

Annals of the New York Academy of Sciences, 2009

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

Tassabehji M et al.

Human Mutation, 2008

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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."