Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.D798V
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USH2A

NM_206933.4:p.D798V

Associated Papers

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Young SL et al.

Bmc Ophthalmology, 2022

35346118 (PubMed )
Supplement: 12886_2022_2353_MOESM3_ESM.xlsx › gnomAD_with_predictors

Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis.

Kim M et al.

Endocrinology and Metabolism (seoul, Korea), 2021

Thyroid cancers of follicular origin in a genomic light: in-depth overview of common and unique molecular marker candidates.

Pstrąg N et al.

Molecular Cancer, 2018

Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.

Kunstman JW et al.

Human Molecular Genetics, 2015

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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."