Varaico: Literature-Extracted Genetic Variants

Gene:ASB10
Variant:p.R72H
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ASB10

NM_001142459.2:p.R72H

Associated Papers

A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Cochran M et al.

Molecular Genetics & Genomic Medicine, 2021

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2

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."