Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.R80fs
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USH1C

NM_153676.4:p.R80fs

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2G.Vars_in_all_genes_Family

Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes.

Grotz S et al.

Embo Molecular Medicine, 2022

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

Kimberling WJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.

Williams DS et al.

Investigative Ophthalmology & Visual Science, 2009

Development of a genotyping microarray for Usher syndrome.

Cremers FP et al.

Journal of Medical Genetics, 2007

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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."