Varaico: Literature-Extracted Genetic Variants

Gene:ASB10
Variant:p.R304C
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ASB10

NM_001142459.2:p.R304C

Associated Papers

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma.

Zhou T et al.

Investigative Ophthalmology & Visual Science, 2017

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7

Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma.

Micheal S et al.

Plos One, 2015

Analysis of ASB10 variants in open angle glaucoma.

Fingert JH et al.

Human Molecular Genetics, 2012

Variants in ASB10 are associated with open-angle glaucoma.

Pasutto F et al.

Human Molecular Genetics, 2012

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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."