Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.A1872fs
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USH2A

NM_206933.4:p.A1872fs

Associated Papers

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.

Feenstra HM et al.

Genes, 2022

36011334 (PubMed )
Supplement: genes-13-01423-s001.zip › genes-1827009-supplementary.pdf

Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.

Molina-Ramírez LP et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ellingford JM et al.

Ophthalmology, 2016

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