Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.E710Splc
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CRB1

NM_201253.3:p.E710Splc

Associated Papers

Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study.

Wang MY et al.

Journal of Medical Genetics, 2024

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Wang P et al.

Translational Vision Science & Technology, 2019

31106028 (PubMed )
Supplement: tvst-08-02-12_s02.xlsx › FINAL-AD-AR-XL-ONE
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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."