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
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
Sarquella-Brugada G et al.
Human Genetics, 2022
New KCNQ1 c.604+1G>C variant associated with Jervell-Lange Nielsen syndrome in homozygosity and compound heterozygosity.
Arana-Rueda E et al.
Revista Espanola De Cardiologia (english Ed.), 2022
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