Varaico: Literature-Extracted Genetic Variants

Gene:GDF6
Variant:p.K424R
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GDF6

NM_001001557.4:p.K424R

Associated Papers

Polygenic risk scores for Crohn's disease risk prediction in a Chinese population: insights from multi-ethnic genome-wide association studies.

Guan L et al.

European Journal of Medical Research, 2026

41545884 (PubMed )
Supplement: 40001_2026_3838_MOESM1_ESM.xlsx › Table_S1

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

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.

Yu AC et al.

Frontiers in Neuroscience, 2019

Eye development genes and known syndromes.

Slavotinek AM

Molecular Genetics and Metabolism, 2011

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

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

Asai-Coakwell M et al.

Human Molecular 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."