Varaico: Literature-Extracted Genetic Variants

Gene:GDF6
Variant:p.R46C
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GDF6

NM_001001557.4:p.R46C

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

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.

Huang X et al.

International Journal of Molecular Medicine, 2015

Diagnostic accuracy of next generation sequencing-based genetic research for primary glaucoma: A systematic review and meta-analysis.

Liu Y et al.

Survey of Ophthalmology, 0

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