Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.V132fs
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USH1G

NM_173477.5:p.V132fs

Associated Papers

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

Fritze JS et al.

Cells, 2024

Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome.

Fritze JS et al.

International Journal of Molecular Sciences, 2023

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

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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."