Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.V369M
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USH2A

NM_206933.4:p.V369M

Associated Papers

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.

Ma J et al.

Human Genomics, 2023

36597107 (PubMed )
Supplement: 40246_2022_449_MOESM3_ESM.xlsx › Sheet1

A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.

Qorri E et al.

International Journal of Molecular Sciences, 2022

35887294 (PubMed )
Supplement: ijms-23-07946-s001.zip › Supplementary_Table_S7.xlsx › Circularity_Dataset__CircD_

Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.

Li W et al.

Frontiers in Genetics, 2022

36110214 (PubMed )
Supplement: Table1.XLSX › 768_distinct_USH2A_variants

Identification of sequence variants associated with severe microtia-astresia by targeted sequencing.

Wang P et al.

Bmc Medical Genomics, 2019

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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."