Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.P2539L
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USH2A

NM_206933.4:p.P2539L

Associated Papers

Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.

Zhang L et al.

Investigative Ophthalmology & Visual Science, 2025

41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1

Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

Wu TH et al.

Scientific Reports, 2023

36918699 (PubMed )
Supplement: 41598_2023_31134_MOESM1_ESM.pdf

Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Florentine MM et al.

Human Genetics, 2022

34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants

Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy.

Su BN et al.

Frontiers in Aging Neuroscience, 2022

36034145 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.

Li W et al.

Frontiers in Genetics, 2022

36110214 (PubMed )
Supplement: Table1.XLSX › 768_distinct_USH2A_variants

Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome.

Brodie KD et al.

The Laryngoscope, 2021

Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.

Xiong J et al.

Frontiers in Neuroscience, 2019

31031587 (PubMed )
Supplement: Table_1.XLSX › ASD_group
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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."