Varaico: Literature-Extracted Genetic Variants

Gene:WDR19
Variant:p.G378_E379Splc
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WDR19

NM_025132.4:p.G378_E379Splc

Associated Papers

New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.

Fernández-Suárez E et al.

Npj Genomic Medicine, 2025

40603303 (PubMed )
Supplement: 41525_2025_500_MOESM2_ESM.xlsx › Supplementary_Data_1
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