Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.T645T
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USH2A

NM_206933.4:p.T645T

Associated Papers

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

Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Abdollahi S et al.

Biomarker Research, 2021

34635181 (PubMed )
Supplement: 40364_2021_330_MOESM2_ESM.xlsx › ___1

Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2.

He C et al.

Bmc Ophthalmology, 2020

32093671 (PubMed )
Supplement: 12886_2020_1342_MOESM2_ESM.xlsx › Sheet1

Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.

Huang L et al.

Eye (london, England), 2018

29899460 (PubMed )
Supplement: 41433_2018_130_MOESM1_ESM.xlsx › USH2A_variants_all

Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

Liu X et al.

Molecular Vision, 2010

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Dai H et al.

Molecular Vision, 2008

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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."