Associated Papers
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Vintschger E et al.
European Journal of Human Genetics : Ejhg, 2023
36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › all_variants_pooled
A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function.
Hayashi T et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2023
Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.
Tabansky I et al.
Frontiers in Immunology, 2022
36268024 (PubMed )
Supplement: Table_1.xlsx › Supplementary_Table_1
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck BB et al.
Human Mutation, 2014
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