Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.S105Splc
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CHM

NM_000390.4:p.S105Splc

Associated Papers

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

Matczyńska E et al.

Biomedicines, 2024

38927562 (PubMed )
Supplement: biomedicines-12-01355-s001.zip › Table_S2_Patients_and_variants.xlsx › merged_variants_and_patients_co

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_MOESM4_ESM.xlsx › Solved_cases
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