Associated Papers
Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases.
Mauro-Herrera M et al.
Genes, 2021
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
Johnston JJ et al.
Cold Spring Harbor Molecular Case Studies, 2017
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