Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.Y1569*
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USH2A

NM_206933.4:p.Y1569*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

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

A novel statistical method for interpreting the pathogenicity of rare variants.

Wang J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S8_USH2A_variants

Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.

Reddy R et al.

Plos One, 2014

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