Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.Q448*
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CRB1

NM_201253.3:p.Q448*

Associated Papers

Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.

Matczyńska E et al.

Biomedicines, 2024

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.

Skorczyk-Werner A et al.

Journal of Applied Genetics, 2023

Clonal architectures and driver mutations in metastatic melanomas.

Ding L et al.

Plos One, 2014

25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S11.xls › Supp_Table_11
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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."