Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.S243*
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USH1G

NM_173477.5:p.S243*

Associated Papers

Nuclear-Cytoplasmic Shuttling of the Usher Syndrome 1G Protein SANS Differs from Its Paralog ANKS4B.

Fritze JS et al.

Cells, 2024

Navigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes.

Busi M et al.

Audiology Research, 2024

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.

Al Mutery A et al.

Human Genetics, 2022

SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes.

Yildirim A et al.

Nucleic Acids Research, 2021

Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.

Sorusch N et al.

Human Molecular Genetics, 2017

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

Imtiaz F et al.

Molecular Vision, 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."