Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.R310W
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USH2A

NM_206933.4:p.R310W

Associated Papers

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Young SL et al.

Bmc Ophthalmology, 2022

35346118 (PubMed )
Supplement: 12886_2022_2353_MOESM3_ESM.xlsx › gnomAD_with_predictors

Mutations driving CLL and their evolution in progression and relapse.

Landau DA et al.

Nature, 2015

26466571 (PubMed )
Supplement: NIHMS715090-supplement-Supplementary_Table_3.xlsx › mutation_annotation_file_538_co
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