Varaico: Literature-Extracted Genetic Variants

Gene:FGD6
Variant:p.Q257R
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FGD6

NM_018351.4:p.Q257R

Associated Papers

HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.

Xu J et al.

European Journal of Neurology, 2024

39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2

A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy.

Huang L et al.

Nature Genetics, 2016

New loci and coding variants confer risk for age-related macular degeneration in East Asians.

Cheng CY et al.

Nature Communications, 2015

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

Genetic Association of Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy.

Chen LJ

Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0

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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."