Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.K838*
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CRB1

NM_201253.3:p.K838*

Associated Papers

Detailed Comparison Between Two Main Phenotypes of CRB1-Related Retinal Dystrophy, Pan-retinopathy and Maculopathy.

Zou X et al.

Investigative Ophthalmology & Visual Science, 2025

[Analysis of clinical manifestations and genetic variants among 11 Chinese pedigrees affected with Leber congenital amaurosis].

Bai Z et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.

Xu K et al.

The British Journal of Ophthalmology, 2020

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

Wang H et al.

Investigative Ophthalmology & Visual Science, 2015

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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."