Varaico: Literature-Extracted Genetic Variants

Gene:GDF6
Variant:p.D216G
Back to variants list

GDF6

NM_001001557.4:p.D216G

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

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.

Asai-Coakwell M et al.

Human Molecular Genetics, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."