Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.Q286fs
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CHM

NM_000390.4:p.Q286fs

Associated Papers

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

Kao HJ et al.

Npj Genomic Medicine, 2024

38195571 (PubMed )
Supplement: 41525_2023_388_MOESM5_ESM.xlsx › In-silico_prediction_of_all_var
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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."