Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.S1893*
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USH2A

NM_206933.4:p.S1893*

Associated Papers

Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.

Surl D et al.

Jama Network Open, 2024

38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.pdf

[Analysis of pathogenic variants of USH2A gene in a child with Usher syndrome type II].

Tang K et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

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