Varaico: Literature-Extracted Genetic Variants

Gene:ASB10
Variant:p.R453C
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ASB10

NM_001142459.2:p.R453C

Associated Papers

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t

Lack of Correlation between ASB10 and Normal-tension Glaucoma in a Population from the Republic of Korea.

Jung SH et al.

Current Eye Research, 2020

Working your SOCS off: The role of ASB10 and protein degradation pathways in glaucoma.

Keller KE et al.

Experimental Eye Research, 2017

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."