Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.V707F
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WFS1

NM_006005.3:p.V707F

Associated Papers

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.

Li J et al.

Biomed Research International, 2021

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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."