Associated Papers
Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa.
Kiener S et al.
Genes, 2023
37895184 (PubMed )
Supplement: genes-14-01835-s001.zip › Table_S3_Private_Variants.xlsx › priv.het.prot.chang.var_case_2
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Iancu IF et al.
International Journal of Molecular Sciences, 2022
35955564 (PubMed )
Supplement: ijms-23-08431-s001.zip › ijms-1808225-supplementary.pdf
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Iancu IF et al.
Npj Genomic Medicine, 2021
33623043 (PubMed )
Supplement: 41525_2021_182_MOESM1_ESM.pdf
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