Varaico: Literature-Extracted Genetic Variants

Gene:STOX1
Variant:p.N825I
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STOX1

NM_152709.5:p.N825I

Associated Papers

Structural Capacitance in Protein Evolution and Human Diseases.

Li C et al.

Journal of Molecular Biology, 2018

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

Zahir FR et al.

Bmc Genomics, 2017

28539120 (PubMed )
Supplement: 12864_2017_3671_MOESM8_ESM.xlsx › Patient_58

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1871.656

Evaluation of STOX1 as a preeclampsia candidate gene in a population-wide sample.

Kivinen K et al.

European Journal of Human Genetics : Ejhg, 2007

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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."